Canonical Allele Identifier: CA375312156

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394342C>G (hg19) ; chr9:g.131518955C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518955C>G , CM000671.2:g.131518955C>G	GRCh38
NC_000009.11:g.134394342C>G , CM000671.1:g.134394342C>G	GRCh37
NC_000009.10:g.133384163C>G	NCBI36
NG_008896.1:g.21054C>G
NG_008896.2:g.21054C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1322C>G	ENSP00000343034.7:p.Ala441Gly
ENST00000404875.7:n.2024C>G
ENST00000423007.6:c.1541C>G	ENSP00000404119.2:p.Ala514Gly
ENST00000677295.2:c.*1828C>G	ENSP00000504346.2:n.*1828C>G
ENST00000678264.2:c.*1667C>G	ENSP00000503157.2:n.*1667C>G
ENST00000682070.1:n.1949C>G
ENST00000682539.1:c.422C>G
ENST00000682813.1:n.1888C>G
ENST00000683392.1:n.4231C>G
ENST00000683712.1:n.1889C>G
ENST00000683900.1:n.3384C>G
ENST00000684062.1:n.2150C>G
ENST00000684579.1:n.3330C>G
ENST00000684679.1:n.711C>G
ENST00000341012.12:c.1322C>G	ENSP00000343034.7:p.Ala441Gly
ENST00000372220.5:c.353C>G	ENSP00000361294.5:p.Ala118Gly
ENST00000372228.9:c.1550C>G	ENSP00000361302.3:p.Ala517Gly
ENST00000402686.8:c.1484C>G MANE Select	ENSP00000385797.4:p.Ala495Gly
ENST00000676640.1:c.1484C>G	ENSP00000503281.1:p.Ala495Gly
ENST00000676803.1:c.659C>G	ENSP00000503093.1:p.Ala220Gly
ENST00000676835.1:c.*699C>G	ENSP00000502911.1:n.*699C>G
ENST00000677029.1:c.1028C>G	ENSP00000502936.1:p.Ala343Gly
ENST00000677099.1:c.*1194C>G	ENSP00000504553.1:n.*1194C>G
ENST00000677216.1:c.1133C>G	ENSP00000503772.1:p.Ala378Gly
ENST00000677221.1:n.509C>G
ENST00000677295.1:c.*861C>G	ENSP00000504346.1:n.*861C>G
ENST00000677444.1:c.1429C>G
ENST00000677586.1:n.965C>G
ENST00000677626.1:c.1133C>G	ENSP00000503552.1:p.Ala378Gly
ENST00000677677.1:n.1444C>G
ENST00000677853.1:c.*492C>G	ENSP00000503488.1:n.*492C>G
ENST00000678202.1:n.643C>G
ENST00000678264.1:c.*861C>G	ENSP00000503157.1:n.*861C>G
ENST00000678303.1:c.1394C>G	ENSP00000503696.1:p.Ala465Gly
ENST00000678366.1:c.*1733C>G	ENSP00000504353.1:n.*1733C>G
ENST00000678546.1:c.*1429C>G	ENSP00000503062.1:n.*1429C>G
ENST00000678548.1:c.*1556C>G	ENSP00000503934.1:n.*1556C>G
ENST00000678626.1:n.1320C>G
ENST00000678733.1:c.565C>G
ENST00000678739.1:c.*1810C>G	ENSP00000503806.1:n.*1810C>G
ENST00000678833.1:c.*931C>G	ENSP00000503893.1:n.*931C>G
ENST00000679023.1:c.1322C>G	ENSP00000503718.1:p.Ala441Gly
ENST00000679076.1:c.1103C>G
ENST00000679111.1:c.*240C>G	ENSP00000504257.1:n.*240C>G
ENST00000679189.1:c.1133C>G	ENSP00000503356.1:p.Ala378Gly
ENST00000341012.11:c.1322C>G	ENSP00000343034.7:p.Ala441Gly
ENST00000372220.4:c.347C>G	ENSP00000361294.4:p.Ala116Gly
ENST00000372228.7:c.1550C>G	ENSP00000361302.3:p.Ala517Gly
ENST00000402686.7:c.1484C>G	ENSP00000385797.3:p.Ala495Gly
ENST00000404875.6:c.1133C>G	ENSP00000384531.2:p.Ala378Gly
ENST00000423007.5:c.1484C>G	ENSP00000404119.1:p.Ala495Gly
ENST00000467848.1:n.188C>G
ENST00000485278.5:n.2039C>G
NM_001077365.1:c.1484C>G	NP_001070833.1:p.Ala495Gly
NM_001077366.1:c.1322C>G	NP_001070834.1:p.Ala441Gly
NM_001136113.1:c.1484C>G	NP_001129585.1:p.Ala495Gly
NM_001136114.1:c.1133C>G	NP_001129586.1:p.Ala378Gly
NM_007171.3:c.1550C>G	NP_009102.3:p.Ala517Gly
XM_005272156.1:c.1550C>G	XP_005272213.1:p.Ala517Gly
XM_005272158.1:c.1388C>G	XP_005272215.1:p.Ala463Gly
XM_005272159.1:c.1199C>G	XP_005272216.1:p.Ala400Gly
XM_005272162.1:c.353C>G	XP_005272219.1:p.Ala118Gly
XM_006716932.1:c.1199C>G	XP_006716995.1:p.Ala400Gly
XM_011518140.1:c.1403C>G	XP_011516442.1:p.Ala468Gly
XM_011518141.1:c.1337C>G	XP_011516443.1:p.Ala446Gly
XM_011518142.1:c.1241C>G	XP_011516444.1:p.Ala414Gly
XM_011518143.1:c.1235C>G	XP_011516445.1:p.Ala412Gly
XM_011518145.1:c.1094C>G	XP_011516447.1:p.Ala365Gly
XM_011518147.1:c.422C>G	XP_011516449.1:p.Ala141Gly
XR_929703.1:n.1726C>G
NM_001353193.1:c.1550C>G	NP_001340122.1:p.Ala517Gly
NM_001353194.1:c.1322C>G	NP_001340123.1:p.Ala441Gly
NM_001353195.1:c.1133C>G	NP_001340124.1:p.Ala378Gly
NM_001353196.1:c.1394C>G	NP_001340125.1:p.Ala465Gly
NM_001353197.1:c.1388C>G	NP_001340126.1:p.Ala463Gly
NM_001353198.1:c.1388C>G	NP_001340127.1:p.Ala463Gly
NM_001353199.1:c.1199C>G	NP_001340128.1:p.Ala400Gly
NM_001353200.1:c.1028C>G	NP_001340129.1:p.Ala343Gly
NR_148391.1:n.1534C>G
NR_148392.1:n.1752C>G
NR_148393.1:n.1673C>G
NR_148394.1:n.1427C>G
NR_148395.1:n.1825C>G
NR_148396.1:n.1459C>G
NR_148397.1:n.1584C>G
NR_148398.1:n.1539C>G
NR_148399.1:n.2065C>G
NR_148400.1:n.1664C>G
XM_005272162.3:c.353C>G	XP_005272219.1:p.Ala118Gly
XM_006716932.2:c.1199C>G	XP_006716995.1:p.Ala400Gly
XM_011518140.2:c.1403C>G	XP_011516442.1:p.Ala468Gly
XM_011518141.2:c.1337C>G	XP_011516443.1:p.Ala446Gly
XM_011518142.2:c.1241C>G	XP_011516444.1:p.Ala414Gly
XM_011518143.2:c.1235C>G	XP_011516445.1:p.Ala412Gly
XM_011518145.2:c.1094C>G	XP_011516447.1:p.Ala365Gly
XM_017014205.2:c.353C>G	XP_016869694.1:p.Ala118Gly
XM_024447380.1:c.353C>G	XP_024303148.1:p.Ala118Gly
XM_024447381.1:c.659C>G	XP_024303149.1:p.Ala220Gly
XM_024447382.1:c.353C>G	XP_024303150.1:p.Ala118Gly
XR_001746160.2:n.1654C>G
XR_001746162.2:n.1859C>G
XR_001746164.1:n.1576C>G
XR_001746166.2:n.1871C>G
NM_001077365.2:c.1484C>G MANE Select	NP_001070833.1:p.Ala495Gly
NM_001077366.2:c.1322C>G	NP_001070834.1:p.Ala441Gly
NM_001136113.2:c.1484C>G	NP_001129585.1:p.Ala495Gly
NM_001136114.2:c.1133C>G	NP_001129586.1:p.Ala378Gly
NM_001353193.2:c.1550C>G	NP_001340122.2:p.Ala517Gly
NM_001353194.2:c.1322C>G	NP_001340123.1:p.Ala441Gly
NM_001353195.2:c.1133C>G	NP_001340124.1:p.Ala378Gly
NM_001353196.2:c.1394C>G	NP_001340125.1:p.Ala465Gly
NM_001353197.2:c.1388C>G	NP_001340126.2:p.Ala463Gly
NM_001353198.2:c.1388C>G	NP_001340127.2:p.Ala463Gly
NM_001353199.2:c.1199C>G	NP_001340128.2:p.Ala400Gly
NM_001353200.2:c.1028C>G	NP_001340129.1:p.Ala343Gly
NM_001374689.1:c.1472C>G	NP_001361618.1:p.Ala491Gly
NM_001374690.1:c.1365+418C>G	NP_001361619.1:n.1365+418C>G
NM_001374691.1:c.1133C>G	NP_001361620.1:p.Ala378Gly
NM_001374692.1:c.1133C>G	NP_001361621.1:p.Ala378Gly
NM_001374693.1:c.1133C>G	NP_001361622.1:p.Ala378Gly
NM_001374695.1:c.1094C>G	NP_001361624.1:p.Ala365Gly
NM_007171.4:c.1550C>G	NP_009102.4:p.Ala517Gly
NR_148391.2:n.1518C>G
NR_148392.2:n.1736C>G
NR_148393.2:n.1657C>G
NR_148394.2:n.1411C>G
NR_148395.2:n.1809C>G
NR_148396.2:n.1443C>G
NR_148397.2:n.1568C>G
NR_148398.2:n.1523C>G
NR_148399.2:n.2049C>G
NR_148400.2:n.1648C>G