Canonical Allele Identifier: CA375312049

Gene: POMT1

Linked Data

• dbSNP Id: rs1588470734
• MyVariant Identifiers: chr9:g.134394314T>G (hg19) ; chr9:g.131518927T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518927T>G , CM000671.2:g.131518927T>G	GRCh38
NC_000009.11:g.134394314T>G , CM000671.1:g.134394314T>G	GRCh37
NC_000009.10:g.133384135T>G	NCBI36
NG_008896.1:g.21026T>G
NG_008896.2:g.21026T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1294T>G	ENSP00000343034.7:p.Trp432Gly
ENST00000404875.7:n.1996T>G
ENST00000423007.6:c.1513T>G	ENSP00000404119.2:p.Trp505Gly
ENST00000677295.2:c.*1800T>G	ENSP00000504346.2:n.*1800T>G
ENST00000678264.2:c.*1639T>G	ENSP00000503157.2:n.*1639T>G
ENST00000682070.1:n.1921T>G
ENST00000682539.1:c.394T>G
ENST00000682813.1:n.1860T>G
ENST00000683392.1:n.4203T>G
ENST00000683712.1:n.1861T>G
ENST00000683900.1:n.3356T>G
ENST00000684062.1:n.2122T>G
ENST00000684579.1:n.3302T>G
ENST00000684679.1:n.683T>G
ENST00000341012.12:c.1294T>G	ENSP00000343034.7:p.Trp432Gly
ENST00000372220.5:c.325T>G	ENSP00000361294.5:p.Trp109Gly
ENST00000372228.9:c.1522T>G	ENSP00000361302.3:p.Trp508Gly
ENST00000402686.8:c.1456T>G MANE Select	ENSP00000385797.4:p.Trp486Gly
ENST00000676640.1:c.1456T>G	ENSP00000503281.1:p.Trp486Gly
ENST00000676803.1:c.631T>G	ENSP00000503093.1:p.Trp211Gly
ENST00000676835.1:c.*671T>G	ENSP00000502911.1:n.*671T>G
ENST00000677029.1:c.1000T>G	ENSP00000502936.1:p.Trp334Gly
ENST00000677099.1:c.*1166T>G	ENSP00000504553.1:n.*1166T>G
ENST00000677216.1:c.1105T>G	ENSP00000503772.1:p.Trp369Gly
ENST00000677221.1:n.481T>G
ENST00000677295.1:c.*833T>G	ENSP00000504346.1:n.*833T>G
ENST00000677444.1:c.1401T>G
ENST00000677586.1:n.937T>G
ENST00000677626.1:c.1105T>G	ENSP00000503552.1:p.Trp369Gly
ENST00000677677.1:n.1416T>G
ENST00000677853.1:c.*464T>G	ENSP00000503488.1:n.*464T>G
ENST00000678202.1:n.615T>G
ENST00000678264.1:c.*833T>G	ENSP00000503157.1:n.*833T>G
ENST00000678303.1:c.1366T>G	ENSP00000503696.1:p.Trp456Gly
ENST00000678366.1:c.*1705T>G	ENSP00000504353.1:n.*1705T>G
ENST00000678546.1:c.*1401T>G	ENSP00000503062.1:n.*1401T>G
ENST00000678548.1:c.*1528T>G	ENSP00000503934.1:n.*1528T>G
ENST00000678626.1:n.1292T>G
ENST00000678733.1:c.537T>G
ENST00000678739.1:c.*1782T>G	ENSP00000503806.1:n.*1782T>G
ENST00000678833.1:c.*903T>G	ENSP00000503893.1:n.*903T>G
ENST00000679023.1:c.1294T>G	ENSP00000503718.1:p.Trp432Gly
ENST00000679076.1:c.1075T>G
ENST00000679111.1:c.*212T>G	ENSP00000504257.1:n.*212T>G
ENST00000679189.1:c.1105T>G	ENSP00000503356.1:p.Trp369Gly
ENST00000341012.11:c.1294T>G	ENSP00000343034.7:p.Trp432Gly
ENST00000372220.4:c.319T>G	ENSP00000361294.4:p.Trp107Gly
ENST00000372228.7:c.1522T>G	ENSP00000361302.3:p.Trp508Gly
ENST00000402686.7:c.1456T>G	ENSP00000385797.3:p.Trp486Gly
ENST00000404875.6:c.1105T>G	ENSP00000384531.2:p.Trp369Gly
ENST00000423007.5:c.1456T>G	ENSP00000404119.1:p.Trp486Gly
ENST00000467848.1:n.160T>G
ENST00000485278.5:n.2011T>G
NM_001077365.1:c.1456T>G	NP_001070833.1:p.Trp486Gly
NM_001077366.1:c.1294T>G	NP_001070834.1:p.Trp432Gly
NM_001136113.1:c.1456T>G	NP_001129585.1:p.Trp486Gly
NM_001136114.1:c.1105T>G	NP_001129586.1:p.Trp369Gly
NM_007171.3:c.1522T>G	NP_009102.3:p.Trp508Gly
XM_005272156.1:c.1522T>G	XP_005272213.1:p.Trp508Gly
XM_005272158.1:c.1360T>G	XP_005272215.1:p.Trp454Gly
XM_005272159.1:c.1171T>G	XP_005272216.1:p.Trp391Gly
XM_005272162.1:c.325T>G	XP_005272219.1:p.Trp109Gly
XM_006716932.1:c.1171T>G	XP_006716995.1:p.Trp391Gly
XM_011518140.1:c.1375T>G	XP_011516442.1:p.Trp459Gly
XM_011518141.1:c.1309T>G	XP_011516443.1:p.Trp437Gly
XM_011518142.1:c.1213T>G	XP_011516444.1:p.Trp405Gly
XM_011518143.1:c.1207T>G	XP_011516445.1:p.Trp403Gly
XM_011518145.1:c.1066T>G	XP_011516447.1:p.Trp356Gly
XM_011518147.1:c.394T>G	XP_011516449.1:p.Trp132Gly
XR_929703.1:n.1698T>G
NM_001353193.1:c.1522T>G	NP_001340122.1:p.Trp508Gly
NM_001353194.1:c.1294T>G	NP_001340123.1:p.Trp432Gly
NM_001353195.1:c.1105T>G	NP_001340124.1:p.Trp369Gly
NM_001353196.1:c.1366T>G	NP_001340125.1:p.Trp456Gly
NM_001353197.1:c.1360T>G	NP_001340126.1:p.Trp454Gly
NM_001353198.1:c.1360T>G	NP_001340127.1:p.Trp454Gly
NM_001353199.1:c.1171T>G	NP_001340128.1:p.Trp391Gly
NM_001353200.1:c.1000T>G	NP_001340129.1:p.Trp334Gly
NR_148391.1:n.1506T>G
NR_148392.1:n.1724T>G
NR_148393.1:n.1645T>G
NR_148394.1:n.1399T>G
NR_148395.1:n.1797T>G
NR_148396.1:n.1431T>G
NR_148397.1:n.1556T>G
NR_148398.1:n.1511T>G
NR_148399.1:n.2037T>G
NR_148400.1:n.1636T>G
XM_005272162.3:c.325T>G	XP_005272219.1:p.Trp109Gly
XM_006716932.2:c.1171T>G	XP_006716995.1:p.Trp391Gly
XM_011518140.2:c.1375T>G	XP_011516442.1:p.Trp459Gly
XM_011518141.2:c.1309T>G	XP_011516443.1:p.Trp437Gly
XM_011518142.2:c.1213T>G	XP_011516444.1:p.Trp405Gly
XM_011518143.2:c.1207T>G	XP_011516445.1:p.Trp403Gly
XM_011518145.2:c.1066T>G	XP_011516447.1:p.Trp356Gly
XM_017014205.2:c.325T>G	XP_016869694.1:p.Trp109Gly
XM_024447380.1:c.325T>G	XP_024303148.1:p.Trp109Gly
XM_024447381.1:c.631T>G	XP_024303149.1:p.Trp211Gly
XM_024447382.1:c.325T>G	XP_024303150.1:p.Trp109Gly
XR_001746160.2:n.1626T>G
XR_001746162.2:n.1831T>G
XR_001746164.1:n.1548T>G
XR_001746166.2:n.1843T>G
NM_001077365.2:c.1456T>G MANE Select	NP_001070833.1:p.Trp486Gly
NM_001077366.2:c.1294T>G	NP_001070834.1:p.Trp432Gly
NM_001136113.2:c.1456T>G	NP_001129585.1:p.Trp486Gly
NM_001136114.2:c.1105T>G	NP_001129586.1:p.Trp369Gly
NM_001353193.2:c.1522T>G	NP_001340122.2:p.Trp508Gly
NM_001353194.2:c.1294T>G	NP_001340123.1:p.Trp432Gly
NM_001353195.2:c.1105T>G	NP_001340124.1:p.Trp369Gly
NM_001353196.2:c.1366T>G	NP_001340125.1:p.Trp456Gly
NM_001353197.2:c.1360T>G	NP_001340126.2:p.Trp454Gly
NM_001353198.2:c.1360T>G	NP_001340127.2:p.Trp454Gly
NM_001353199.2:c.1171T>G	NP_001340128.2:p.Trp391Gly
NM_001353200.2:c.1000T>G	NP_001340129.1:p.Trp334Gly
NM_001374689.1:c.1444T>G	NP_001361618.1:p.Trp482Gly
NM_001374690.1:c.1365+390T>G	NP_001361619.1:n.1365+390T>G
NM_001374691.1:c.1105T>G	NP_001361620.1:p.Trp369Gly
NM_001374692.1:c.1105T>G	NP_001361621.1:p.Trp369Gly
NM_001374693.1:c.1105T>G	NP_001361622.1:p.Trp369Gly
NM_001374695.1:c.1066T>G	NP_001361624.1:p.Trp356Gly
NM_007171.4:c.1522T>G	NP_009102.4:p.Trp508Gly
NR_148391.2:n.1490T>G
NR_148392.2:n.1708T>G
NR_148393.2:n.1629T>G
NR_148394.2:n.1383T>G
NR_148395.2:n.1781T>G
NR_148396.2:n.1415T>G
NR_148397.2:n.1540T>G
NR_148398.2:n.1495T>G
NR_148399.2:n.2021T>G
NR_148400.2:n.1620T>G