Canonical Allele Identifier: CA375311468

Gene: POMT1

Linked Data

• dbSNP Id: rs1230206806
• gnomAD v2: 9-134393906-C-A
• gnomAD v4: 9-131518519-C-A
• MyVariant Identifiers: chr9:g.134393906C>A (hg19) ; chr9:g.131518519C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518519C>A , CM000671.2:g.131518519C>A	GRCh38
NC_000009.11:g.134393906C>A , CM000671.1:g.134393906C>A	GRCh37
NC_000009.10:g.133383727C>A	NCBI36
NG_008896.1:g.20618C>A
NG_008896.2:g.20618C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1185C>A	ENSP00000343034.7:p.Asn395Lys
ENST00000404875.7:n.1887C>A
ENST00000423007.6:c.1404C>A	ENSP00000404119.2:p.Asn468Lys
ENST00000677295.2:c.*1691C>A	ENSP00000504346.2:n.*1691C>A
ENST00000678264.2:c.*1530C>A	ENSP00000503157.2:n.*1530C>A
ENST00000682070.1:n.1812C>A
ENST00000682535.1:n.119C>A
ENST00000682539.1:c.285C>A
ENST00000682813.1:n.1612C>A
ENST00000683110.1:n.75C>A
ENST00000683392.1:n.4094C>A
ENST00000683712.1:n.1752C>A
ENST00000683900.1:n.3247C>A
ENST00000684062.1:n.2013C>A
ENST00000684579.1:n.3193C>A
ENST00000684679.1:n.574C>A
ENST00000341012.12:c.1185C>A	ENSP00000343034.7:p.Asn395Lys
ENST00000372220.5:c.216C>A	ENSP00000361294.5:p.Asn72Lys
ENST00000372228.9:c.1413C>A	ENSP00000361302.3:p.Asn471Lys
ENST00000402686.8:c.1347C>A MANE Select	ENSP00000385797.4:p.Asn449Lys
ENST00000676640.1:c.1347C>A	ENSP00000503281.1:p.Asn449Lys
ENST00000676803.1:c.522C>A	ENSP00000503093.1:p.Asn174Lys
ENST00000676835.1:c.*562C>A	ENSP00000502911.1:n.*562C>A
ENST00000677029.1:c.891C>A	ENSP00000502936.1:p.Asn297Lys
ENST00000677099.1:c.*1057C>A	ENSP00000504553.1:n.*1057C>A
ENST00000677216.1:c.996C>A	ENSP00000503772.1:p.Asn332Lys
ENST00000677221.1:n.372C>A
ENST00000677295.1:c.*724C>A	ENSP00000504346.1:n.*724C>A
ENST00000677444.1:c.1153C>A
ENST00000677586.1:n.828C>A
ENST00000677626.1:c.996C>A	ENSP00000503552.1:p.Asn332Lys
ENST00000677677.1:n.1307C>A
ENST00000677853.1:c.*355C>A	ENSP00000503488.1:n.*355C>A
ENST00000677983.1:n.436C>A
ENST00000678202.1:n.367C>A
ENST00000678264.1:c.*724C>A	ENSP00000503157.1:n.*724C>A
ENST00000678303.1:c.1257C>A	ENSP00000503696.1:p.Asn419Lys
ENST00000678366.1:c.*1596C>A	ENSP00000504353.1:n.*1596C>A
ENST00000678546.1:c.*1292C>A	ENSP00000503062.1:n.*1292C>A
ENST00000678548.1:c.*1419C>A	ENSP00000503934.1:n.*1419C>A
ENST00000678626.1:n.1044C>A
ENST00000678733.1:c.428C>A
ENST00000678739.1:c.*1673C>A	ENSP00000503806.1:n.*1673C>A
ENST00000678795.1:n.434C>A
ENST00000678833.1:c.*794C>A	ENSP00000503893.1:n.*794C>A
ENST00000678942.1:c.527C>A	ENSP00000504690.1:n.527C>A
ENST00000679023.1:c.1185C>A	ENSP00000503718.1:p.Asn395Lys
ENST00000679076.1:c.966C>A
ENST00000679111.1:c.1347C>A	ENSP00000504257.1:p.Asn449Lys
ENST00000679189.1:c.996C>A	ENSP00000503356.1:p.Asn332Lys
ENST00000341012.11:c.1185C>A	ENSP00000343034.7:p.Asn395Lys
ENST00000372220.4:c.210C>A	ENSP00000361294.4:p.Asn70Lys
ENST00000372228.7:c.1413C>A	ENSP00000361302.3:p.Asn471Lys
ENST00000402686.7:c.1347C>A	ENSP00000385797.3:p.Asn449Lys
ENST00000404875.6:c.996C>A	ENSP00000384531.2:p.Asn332Lys
ENST00000423007.5:c.1347C>A	ENSP00000404119.1:p.Asn449Lys
ENST00000485278.5:n.1902C>A
NM_001077365.1:c.1347C>A	NP_001070833.1:p.Asn449Lys
NM_001077366.1:c.1185C>A	NP_001070834.1:p.Asn395Lys
NM_001136113.1:c.1347C>A	NP_001129585.1:p.Asn449Lys
NM_001136114.1:c.996C>A	NP_001129586.1:p.Asn332Lys
NM_007171.3:c.1413C>A	NP_009102.3:p.Asn471Lys
XM_005272156.1:c.1413C>A	XP_005272213.1:p.Asn471Lys
XM_005272158.1:c.1251C>A	XP_005272215.1:p.Asn417Lys
XM_005272159.1:c.1062C>A	XP_005272216.1:p.Asn354Lys
XM_005272162.1:c.216C>A	XP_005272219.1:p.Asn72Lys
XM_006716932.1:c.1062C>A	XP_006716995.1:p.Asn354Lys
XM_011518140.1:c.1266C>A	XP_011516442.1:p.Asn422Lys
XM_011518141.1:c.1200C>A	XP_011516443.1:p.Asn400Lys
XM_011518142.1:c.1104C>A	XP_011516444.1:p.Asn368Lys
XM_011518143.1:c.1098C>A	XP_011516445.1:p.Asn366Lys
XM_011518144.1:c.1413C>A	XP_011516446.1:p.Asn471Lys
XM_011518145.1:c.957C>A	XP_011516447.1:p.Asn319Lys
XM_011518146.1:c.1098C>A	XP_011516448.1:p.Asn366Lys
XM_011518147.1:c.285C>A	XP_011516449.1:p.Asn95Lys
XR_929703.1:n.1589C>A
NM_001353193.1:c.1413C>A	NP_001340122.1:p.Asn471Lys
NM_001353194.1:c.1185C>A	NP_001340123.1:p.Asn395Lys
NM_001353195.1:c.996C>A	NP_001340124.1:p.Asn332Lys
NM_001353196.1:c.1257C>A	NP_001340125.1:p.Asn419Lys
NM_001353197.1:c.1251C>A	NP_001340126.1:p.Asn417Lys
NM_001353198.1:c.1251C>A	NP_001340127.1:p.Asn417Lys
NM_001353199.1:c.1062C>A	NP_001340128.1:p.Asn354Lys
NM_001353200.1:c.891C>A	NP_001340129.1:p.Asn297Lys
NR_148391.1:n.1397C>A
NR_148392.1:n.1615C>A
NR_148393.1:n.1397C>A
NR_148394.1:n.1290C>A
NR_148395.1:n.1549C>A
NR_148396.1:n.1183C>A
NR_148397.1:n.1447C>A
NR_148398.1:n.1402C>A
NR_148399.1:n.1789C>A
NR_148400.1:n.1388C>A
XM_005272162.3:c.216C>A	XP_005272219.1:p.Asn72Lys
XM_006716932.2:c.1062C>A	XP_006716995.1:p.Asn354Lys
XM_011518140.2:c.1266C>A	XP_011516442.1:p.Asn422Lys
XM_011518141.2:c.1200C>A	XP_011516443.1:p.Asn400Lys
XM_011518142.2:c.1104C>A	XP_011516444.1:p.Asn368Lys
XM_011518143.2:c.1098C>A	XP_011516445.1:p.Asn366Lys
XM_011518145.2:c.957C>A	XP_011516447.1:p.Asn319Lys
XM_017014205.2:c.216C>A	XP_016869694.1:p.Asn72Lys
XM_024447380.1:c.216C>A	XP_024303148.1:p.Asn72Lys
XM_024447381.1:c.522C>A	XP_024303149.1:p.Asn174Lys
XM_024447382.1:c.216C>A	XP_024303150.1:p.Asn72Lys
XR_001746160.2:n.1517C>A
XR_001746162.2:n.1583C>A
XR_001746164.1:n.1300C>A
XR_001746166.2:n.1734C>A
NM_001077365.2:c.1347C>A MANE Select	NP_001070833.1:p.Asn449Lys
NM_001077366.2:c.1185C>A	NP_001070834.1:p.Asn395Lys
NM_001136113.2:c.1347C>A	NP_001129585.1:p.Asn449Lys
NM_001136114.2:c.996C>A	NP_001129586.1:p.Asn332Lys
NM_001353193.2:c.1413C>A	NP_001340122.2:p.Asn471Lys
NM_001353194.2:c.1185C>A	NP_001340123.1:p.Asn395Lys
NM_001353195.2:c.996C>A	NP_001340124.1:p.Asn332Lys
NM_001353196.2:c.1257C>A	NP_001340125.1:p.Asn419Lys
NM_001353197.2:c.1251C>A	NP_001340126.2:p.Asn417Lys
NM_001353198.2:c.1251C>A	NP_001340127.2:p.Asn417Lys
NM_001353199.2:c.1062C>A	NP_001340128.2:p.Asn354Lys
NM_001353200.2:c.891C>A	NP_001340129.1:p.Asn297Lys
NM_001374689.1:c.1335C>A	NP_001361618.1:p.Asn445Lys
NM_001374690.1:c.1347C>A	NP_001361619.1:p.Asn449Lys
NM_001374691.1:c.996C>A	NP_001361620.1:p.Asn332Lys
NM_001374692.1:c.996C>A	NP_001361621.1:p.Asn332Lys
NM_001374693.1:c.996C>A	NP_001361622.1:p.Asn332Lys
NM_001374695.1:c.957C>A	NP_001361624.1:p.Asn319Lys
NM_007171.4:c.1413C>A	NP_009102.4:p.Asn471Lys
NR_148391.2:n.1381C>A
NR_148392.2:n.1599C>A
NR_148393.2:n.1381C>A
NR_148394.2:n.1274C>A
NR_148395.2:n.1533C>A
NR_148396.2:n.1167C>A
NR_148397.2:n.1431C>A
NR_148398.2:n.1386C>A
NR_148399.2:n.1773C>A
NR_148400.2:n.1372C>A