Canonical Allele Identifier: CA467423521

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394295C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518908C>G , CM000671.2:g.131518908C>G	GRCh38
NC_000009.11:g.134394295C>G , CM000671.1:g.134394295C>G	GRCh37
NC_000009.10:g.133384116C>G	NCBI36
NG_008896.1:g.21007C>G
NG_008896.2:g.21007C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1275C>G	ENSP00000343034.7:p.Gly425=
ENST00000404875.7:n.1977C>G
ENST00000423007.6:c.1494C>G	ENSP00000404119.2:p.Gly498=
ENST00000677295.2:c.*1781C>G	ENSP00000504346.2:n.*1781C>G
ENST00000678264.2:c.*1620C>G	ENSP00000503157.2:n.*1620C>G
ENST00000682070.1:n.1902C>G
ENST00000682539.1:c.375C>G
ENST00000682813.1:n.1841C>G
ENST00000683392.1:n.4184C>G
ENST00000683712.1:n.1842C>G
ENST00000683900.1:n.3337C>G
ENST00000684062.1:n.2103C>G
ENST00000684579.1:n.3283C>G
ENST00000684679.1:n.664C>G
ENST00000341012.12:c.1275C>G	ENSP00000343034.7:p.Gly425=
ENST00000372220.5:c.306C>G	ENSP00000361294.5:p.Gly102=
ENST00000372228.9:c.1503C>G	ENSP00000361302.3:p.Gly501=
ENST00000402686.8:c.1437C>G MANE Select	ENSP00000385797.4:p.Gly479=
ENST00000676640.1:c.1437C>G	ENSP00000503281.1:p.Gly479=
ENST00000676803.1:c.612C>G	ENSP00000503093.1:p.Gly204=
ENST00000676835.1:c.*652C>G	ENSP00000502911.1:n.*652C>G
ENST00000677029.1:c.981C>G	ENSP00000502936.1:p.Gly327=
ENST00000677099.1:c.*1147C>G	ENSP00000504553.1:n.*1147C>G
ENST00000677216.1:c.1086C>G	ENSP00000503772.1:p.Gly362=
ENST00000677221.1:n.462C>G
ENST00000677295.1:c.*814C>G	ENSP00000504346.1:n.*814C>G
ENST00000677444.1:c.1382C>G
ENST00000677586.1:n.918C>G
ENST00000677626.1:c.1086C>G	ENSP00000503552.1:p.Gly362=
ENST00000677677.1:n.1397C>G
ENST00000677853.1:c.*445C>G	ENSP00000503488.1:n.*445C>G
ENST00000678202.1:n.596C>G
ENST00000678264.1:c.*814C>G	ENSP00000503157.1:n.*814C>G
ENST00000678303.1:c.1347C>G	ENSP00000503696.1:p.Gly449=
ENST00000678366.1:c.*1686C>G	ENSP00000504353.1:n.*1686C>G
ENST00000678546.1:c.*1382C>G	ENSP00000503062.1:n.*1382C>G
ENST00000678548.1:c.*1509C>G	ENSP00000503934.1:n.*1509C>G
ENST00000678626.1:n.1273C>G
ENST00000678733.1:c.518C>G
ENST00000678739.1:c.*1763C>G	ENSP00000503806.1:n.*1763C>G
ENST00000678833.1:c.*884C>G	ENSP00000503893.1:n.*884C>G
ENST00000679023.1:c.1275C>G	ENSP00000503718.1:p.Gly425=
ENST00000679076.1:c.1056C>G
ENST00000679111.1:c.*193C>G	ENSP00000504257.1:n.*193C>G
ENST00000679189.1:c.1086C>G	ENSP00000503356.1:p.Gly362=
ENST00000341012.11:c.1275C>G	ENSP00000343034.7:p.Gly425=
ENST00000372220.4:c.300C>G	ENSP00000361294.4:p.Gly100=
ENST00000372228.7:c.1503C>G	ENSP00000361302.3:p.Gly501=
ENST00000402686.7:c.1437C>G	ENSP00000385797.3:p.Gly479=
ENST00000404875.6:c.1086C>G	ENSP00000384531.2:p.Gly362=
ENST00000423007.5:c.1437C>G	ENSP00000404119.1:p.Gly479=
ENST00000467848.1:n.141C>G
ENST00000485278.5:n.1992C>G
NM_001077365.1:c.1437C>G	NP_001070833.1:p.Gly479=
NM_001077366.1:c.1275C>G	NP_001070834.1:p.Gly425=
NM_001136113.1:c.1437C>G	NP_001129585.1:p.Gly479=
NM_001136114.1:c.1086C>G	NP_001129586.1:p.Gly362=
NM_007171.3:c.1503C>G	NP_009102.3:p.Gly501=
XM_005272156.1:c.1503C>G	XP_005272213.1:p.Gly501=
XM_005272158.1:c.1341C>G	XP_005272215.1:p.Gly447=
XM_005272159.1:c.1152C>G	XP_005272216.1:p.Gly384=
XM_005272162.1:c.306C>G	XP_005272219.1:p.Gly102=
XM_006716932.1:c.1152C>G	XP_006716995.1:p.Gly384=
XM_011518140.1:c.1356C>G	XP_011516442.1:p.Gly452=
XM_011518141.1:c.1290C>G	XP_011516443.1:p.Gly430=
XM_011518142.1:c.1194C>G	XP_011516444.1:p.Gly398=
XM_011518143.1:c.1188C>G	XP_011516445.1:p.Gly396=
XM_011518145.1:c.1047C>G	XP_011516447.1:p.Gly349=
XM_011518147.1:c.375C>G	XP_011516449.1:p.Gly125=
XR_929703.1:n.1679C>G
NM_001353193.1:c.1503C>G	NP_001340122.1:p.Gly501=
NM_001353194.1:c.1275C>G	NP_001340123.1:p.Gly425=
NM_001353195.1:c.1086C>G	NP_001340124.1:p.Gly362=
NM_001353196.1:c.1347C>G	NP_001340125.1:p.Gly449=
NM_001353197.1:c.1341C>G	NP_001340126.1:p.Gly447=
NM_001353198.1:c.1341C>G	NP_001340127.1:p.Gly447=
NM_001353199.1:c.1152C>G	NP_001340128.1:p.Gly384=
NM_001353200.1:c.981C>G	NP_001340129.1:p.Gly327=
NR_148391.1:n.1487C>G
NR_148392.1:n.1705C>G
NR_148393.1:n.1626C>G
NR_148394.1:n.1380C>G
NR_148395.1:n.1778C>G
NR_148396.1:n.1412C>G
NR_148397.1:n.1537C>G
NR_148398.1:n.1492C>G
NR_148399.1:n.2018C>G
NR_148400.1:n.1617C>G
XM_005272162.3:c.306C>G	XP_005272219.1:p.Gly102=
XM_006716932.2:c.1152C>G	XP_006716995.1:p.Gly384=
XM_011518140.2:c.1356C>G	XP_011516442.1:p.Gly452=
XM_011518141.2:c.1290C>G	XP_011516443.1:p.Gly430=
XM_011518142.2:c.1194C>G	XP_011516444.1:p.Gly398=
XM_011518143.2:c.1188C>G	XP_011516445.1:p.Gly396=
XM_011518145.2:c.1047C>G	XP_011516447.1:p.Gly349=
XM_017014205.2:c.306C>G	XP_016869694.1:p.Gly102=
XM_024447380.1:c.306C>G	XP_024303148.1:p.Gly102=
XM_024447381.1:c.612C>G	XP_024303149.1:p.Gly204=
XM_024447382.1:c.306C>G	XP_024303150.1:p.Gly102=
XR_001746160.2:n.1607C>G
XR_001746162.2:n.1812C>G
XR_001746164.1:n.1529C>G
XR_001746166.2:n.1824C>G
NM_001077365.2:c.1437C>G MANE Select	NP_001070833.1:p.Gly479=
NM_001077366.2:c.1275C>G	NP_001070834.1:p.Gly425=
NM_001136113.2:c.1437C>G	NP_001129585.1:p.Gly479=
NM_001136114.2:c.1086C>G	NP_001129586.1:p.Gly362=
NM_001353193.2:c.1503C>G	NP_001340122.2:p.Gly501=
NM_001353194.2:c.1275C>G	NP_001340123.1:p.Gly425=
NM_001353195.2:c.1086C>G	NP_001340124.1:p.Gly362=
NM_001353196.2:c.1347C>G	NP_001340125.1:p.Gly449=
NM_001353197.2:c.1341C>G	NP_001340126.2:p.Gly447=
NM_001353198.2:c.1341C>G	NP_001340127.2:p.Gly447=
NM_001353199.2:c.1152C>G	NP_001340128.2:p.Gly384=
NM_001353200.2:c.981C>G	NP_001340129.1:p.Gly327=
NM_001374689.1:c.1425C>G	NP_001361618.1:p.Gly475=
NM_001374690.1:c.1365+371C>G	NP_001361619.1:n.1365+371C>G
NM_001374691.1:c.1086C>G	NP_001361620.1:p.Gly362=
NM_001374692.1:c.1086C>G	NP_001361621.1:p.Gly362=
NM_001374693.1:c.1086C>G	NP_001361622.1:p.Gly362=
NM_001374695.1:c.1047C>G	NP_001361624.1:p.Gly349=
NM_007171.4:c.1503C>G	NP_009102.4:p.Gly501=
NR_148391.2:n.1471C>G
NR_148392.2:n.1689C>G
NR_148393.2:n.1610C>G
NR_148394.2:n.1364C>G
NR_148395.2:n.1762C>G
NR_148396.2:n.1396C>G
NR_148397.2:n.1521C>G
NR_148398.2:n.1476C>G
NR_148399.2:n.2002C>G
NR_148400.2:n.1601C>G