Canonical Allele Identifier: CA375311194

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393855C>A (hg19) ; chr9:g.131518468C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518468C>A , CM000671.2:g.131518468C>A	GRCh38
NC_000009.11:g.134393855C>A , CM000671.1:g.134393855C>A	GRCh37
NC_000009.10:g.133383676C>A	NCBI36
NG_008896.1:g.20567C>A
NG_008896.2:g.20567C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1134C>A	ENSP00000343034.7:p.Asp378Glu
ENST00000404875.7:n.1836C>A
ENST00000423007.6:c.1353C>A	ENSP00000404119.2:p.Asp451Glu
ENST00000677295.2:c.*1640C>A	ENSP00000504346.2:n.*1640C>A
ENST00000678264.2:c.*1479C>A	ENSP00000503157.2:n.*1479C>A
ENST00000682070.1:n.1761C>A
ENST00000682535.1:n.68C>A
ENST00000682539.1:c.234C>A
ENST00000682813.1:n.1561C>A
ENST00000683110.1:n.24C>A
ENST00000683392.1:n.4043C>A
ENST00000683712.1:n.1701C>A
ENST00000683900.1:n.3196C>A
ENST00000684062.1:n.1962C>A
ENST00000684579.1:n.3142C>A
ENST00000684679.1:n.523C>A
ENST00000341012.12:c.1134C>A	ENSP00000343034.7:p.Asp378Glu
ENST00000372220.5:c.165C>A	ENSP00000361294.5:p.Asp55Glu
ENST00000372228.9:c.1362C>A	ENSP00000361302.3:p.Asp454Glu
ENST00000402686.8:c.1296C>A MANE Select	ENSP00000385797.4:p.Asp432Glu
ENST00000676640.1:c.1296C>A	ENSP00000503281.1:p.Asp432Glu
ENST00000676803.1:c.471C>A	ENSP00000503093.1:p.Asp157Glu
ENST00000676835.1:c.*511C>A	ENSP00000502911.1:n.*511C>A
ENST00000677029.1:c.840C>A	ENSP00000502936.1:p.Asp280Glu
ENST00000677099.1:c.*1006C>A	ENSP00000504553.1:n.*1006C>A
ENST00000677216.1:c.945C>A	ENSP00000503772.1:p.Asp315Glu
ENST00000677221.1:n.321C>A
ENST00000677295.1:c.*673C>A	ENSP00000504346.1:n.*673C>A
ENST00000677444.1:c.1102C>A
ENST00000677586.1:n.777C>A
ENST00000677626.1:c.945C>A	ENSP00000503552.1:p.Asp315Glu
ENST00000677677.1:n.1256C>A
ENST00000677853.1:c.*304C>A	ENSP00000503488.1:n.*304C>A
ENST00000677983.1:n.385C>A
ENST00000678202.1:n.316C>A
ENST00000678264.1:c.*673C>A	ENSP00000503157.1:n.*673C>A
ENST00000678303.1:c.1206C>A	ENSP00000503696.1:p.Asp402Glu
ENST00000678366.1:c.*1545C>A	ENSP00000504353.1:n.*1545C>A
ENST00000678546.1:c.*1241C>A	ENSP00000503062.1:n.*1241C>A
ENST00000678548.1:c.*1368C>A	ENSP00000503934.1:n.*1368C>A
ENST00000678626.1:n.993C>A
ENST00000678733.1:c.377C>A
ENST00000678739.1:c.*1622C>A	ENSP00000503806.1:n.*1622C>A
ENST00000678795.1:n.383C>A
ENST00000678833.1:c.*743C>A	ENSP00000503893.1:n.*743C>A
ENST00000678942.1:c.476C>A	ENSP00000504690.1:n.476C>A
ENST00000679023.1:c.1134C>A	ENSP00000503718.1:p.Asp378Glu
ENST00000679076.1:c.915C>A
ENST00000679111.1:c.1296C>A	ENSP00000504257.1:p.Asp432Glu
ENST00000679189.1:c.945C>A	ENSP00000503356.1:p.Asp315Glu
ENST00000341012.11:c.1134C>A	ENSP00000343034.7:p.Asp378Glu
ENST00000372220.4:c.159C>A	ENSP00000361294.4:p.Asp53Glu
ENST00000372228.7:c.1362C>A	ENSP00000361302.3:p.Asp454Glu
ENST00000402686.7:c.1296C>A	ENSP00000385797.3:p.Asp432Glu
ENST00000404875.6:c.945C>A	ENSP00000384531.2:p.Asp315Glu
ENST00000423007.5:c.1296C>A	ENSP00000404119.1:p.Asp432Glu
ENST00000485278.5:n.1851C>A
NM_001077365.1:c.1296C>A	NP_001070833.1:p.Asp432Glu
NM_001077366.1:c.1134C>A	NP_001070834.1:p.Asp378Glu
NM_001136113.1:c.1296C>A	NP_001129585.1:p.Asp432Glu
NM_001136114.1:c.945C>A	NP_001129586.1:p.Asp315Glu
NM_007171.3:c.1362C>A	NP_009102.3:p.Asp454Glu
XM_005272156.1:c.1362C>A	XP_005272213.1:p.Asp454Glu
XM_005272158.1:c.1200C>A	XP_005272215.1:p.Asp400Glu
XM_005272159.1:c.1011C>A	XP_005272216.1:p.Asp337Glu
XM_005272162.1:c.165C>A	XP_005272219.1:p.Asp55Glu
XM_006716932.1:c.1011C>A	XP_006716995.1:p.Asp337Glu
XM_011518140.1:c.1215C>A	XP_011516442.1:p.Asp405Glu
XM_011518141.1:c.1149C>A	XP_011516443.1:p.Asp383Glu
XM_011518142.1:c.1053C>A	XP_011516444.1:p.Asp351Glu
XM_011518143.1:c.1047C>A	XP_011516445.1:p.Asp349Glu
XM_011518144.1:c.1362C>A	XP_011516446.1:p.Asp454Glu
XM_011518145.1:c.906C>A	XP_011516447.1:p.Asp302Glu
XM_011518146.1:c.1047C>A	XP_011516448.1:p.Asp349Glu
XM_011518147.1:c.234C>A	XP_011516449.1:p.Asp78Glu
XR_929703.1:n.1538C>A
NM_001353193.1:c.1362C>A	NP_001340122.1:p.Asp454Glu
NM_001353194.1:c.1134C>A	NP_001340123.1:p.Asp378Glu
NM_001353195.1:c.945C>A	NP_001340124.1:p.Asp315Glu
NM_001353196.1:c.1206C>A	NP_001340125.1:p.Asp402Glu
NM_001353197.1:c.1200C>A	NP_001340126.1:p.Asp400Glu
NM_001353198.1:c.1200C>A	NP_001340127.1:p.Asp400Glu
NM_001353199.1:c.1011C>A	NP_001340128.1:p.Asp337Glu
NM_001353200.1:c.840C>A	NP_001340129.1:p.Asp280Glu
NR_148391.1:n.1346C>A
NR_148392.1:n.1564C>A
NR_148393.1:n.1346C>A
NR_148394.1:n.1239C>A
NR_148395.1:n.1498C>A
NR_148396.1:n.1132C>A
NR_148397.1:n.1396C>A
NR_148398.1:n.1351C>A
NR_148399.1:n.1738C>A
NR_148400.1:n.1337C>A
XM_005272162.3:c.165C>A	XP_005272219.1:p.Asp55Glu
XM_006716932.2:c.1011C>A	XP_006716995.1:p.Asp337Glu
XM_011518140.2:c.1215C>A	XP_011516442.1:p.Asp405Glu
XM_011518141.2:c.1149C>A	XP_011516443.1:p.Asp383Glu
XM_011518142.2:c.1053C>A	XP_011516444.1:p.Asp351Glu
XM_011518143.2:c.1047C>A	XP_011516445.1:p.Asp349Glu
XM_011518145.2:c.906C>A	XP_011516447.1:p.Asp302Glu
XM_017014205.2:c.165C>A	XP_016869694.1:p.Asp55Glu
XM_024447380.1:c.165C>A	XP_024303148.1:p.Asp55Glu
XM_024447381.1:c.471C>A	XP_024303149.1:p.Asp157Glu
XM_024447382.1:c.165C>A	XP_024303150.1:p.Asp55Glu
XR_001746160.2:n.1466C>A
XR_001746162.2:n.1532C>A
XR_001746164.1:n.1249C>A
XR_001746166.2:n.1683C>A
NM_001077365.2:c.1296C>A MANE Select	NP_001070833.1:p.Asp432Glu
NM_001077366.2:c.1134C>A	NP_001070834.1:p.Asp378Glu
NM_001136113.2:c.1296C>A	NP_001129585.1:p.Asp432Glu
NM_001136114.2:c.945C>A	NP_001129586.1:p.Asp315Glu
NM_001353193.2:c.1362C>A	NP_001340122.2:p.Asp454Glu
NM_001353194.2:c.1134C>A	NP_001340123.1:p.Asp378Glu
NM_001353195.2:c.945C>A	NP_001340124.1:p.Asp315Glu
NM_001353196.2:c.1206C>A	NP_001340125.1:p.Asp402Glu
NM_001353197.2:c.1200C>A	NP_001340126.2:p.Asp400Glu
NM_001353198.2:c.1200C>A	NP_001340127.2:p.Asp400Glu
NM_001353199.2:c.1011C>A	NP_001340128.2:p.Asp337Glu
NM_001353200.2:c.840C>A	NP_001340129.1:p.Asp280Glu
NM_001374689.1:c.1284C>A	NP_001361618.1:p.Asp428Glu
NM_001374690.1:c.1296C>A	NP_001361619.1:p.Asp432Glu
NM_001374691.1:c.945C>A	NP_001361620.1:p.Asp315Glu
NM_001374692.1:c.945C>A	NP_001361621.1:p.Asp315Glu
NM_001374693.1:c.945C>A	NP_001361622.1:p.Asp315Glu
NM_001374695.1:c.906C>A	NP_001361624.1:p.Asp302Glu
NM_007171.4:c.1362C>A	NP_009102.4:p.Asp454Glu
NR_148391.2:n.1330C>A
NR_148392.2:n.1548C>A
NR_148393.2:n.1330C>A
NR_148394.2:n.1223C>A
NR_148395.2:n.1482C>A
NR_148396.2:n.1116C>A
NR_148397.2:n.1380C>A
NR_148398.2:n.1335C>A
NR_148399.2:n.1722C>A
NR_148400.2:n.1321C>A