Canonical Allele Identifier: CA467423473

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518537-G-A
• MyVariant Identifiers: chr9:g.134393924G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518537G>A , CM000671.2:g.131518537G>A	GRCh38
NC_000009.11:g.134393924G>A , CM000671.1:g.134393924G>A	GRCh37
NC_000009.10:g.133383745G>A	NCBI36
NG_008896.1:g.20636G>A
NG_008896.2:g.20636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1203G>A	ENSP00000343034.7:p.Lys401=
ENST00000404875.7:n.1905G>A
ENST00000423007.6:c.1422G>A	ENSP00000404119.2:p.Lys474=
ENST00000677295.2:c.*1709G>A	ENSP00000504346.2:n.*1709G>A
ENST00000678264.2:c.*1548G>A	ENSP00000503157.2:n.*1548G>A
ENST00000682070.1:n.1830G>A
ENST00000682535.1:n.137G>A
ENST00000682539.1:c.303G>A
ENST00000682813.1:n.1630G>A
ENST00000683110.1:n.93G>A
ENST00000683392.1:n.4112G>A
ENST00000683712.1:n.1770G>A
ENST00000683900.1:n.3265G>A
ENST00000684062.1:n.2031G>A
ENST00000684579.1:n.3211G>A
ENST00000684679.1:n.592G>A
ENST00000341012.12:c.1203G>A	ENSP00000343034.7:p.Lys401=
ENST00000372220.5:c.234G>A	ENSP00000361294.5:p.Lys78=
ENST00000372228.9:c.1431G>A	ENSP00000361302.3:p.Lys477=
ENST00000402686.8:c.1365G>A MANE Select	ENSP00000385797.4:p.Lys455=
ENST00000676640.1:c.1365G>A	ENSP00000503281.1:p.Lys455=
ENST00000676803.1:c.540G>A	ENSP00000503093.1:p.Lys180=
ENST00000676835.1:c.*580G>A	ENSP00000502911.1:n.*580G>A
ENST00000677029.1:c.909G>A	ENSP00000502936.1:p.Lys303=
ENST00000677099.1:c.*1075G>A	ENSP00000504553.1:n.*1075G>A
ENST00000677216.1:c.1014G>A	ENSP00000503772.1:p.Lys338=
ENST00000677221.1:n.390G>A
ENST00000677295.1:c.*742G>A	ENSP00000504346.1:n.*742G>A
ENST00000677444.1:c.1171G>A
ENST00000677586.1:n.846G>A
ENST00000677626.1:c.1014G>A	ENSP00000503552.1:p.Lys338=
ENST00000677677.1:n.1325G>A
ENST00000677853.1:c.*373G>A	ENSP00000503488.1:n.*373G>A
ENST00000677983.1:n.454G>A
ENST00000678202.1:n.385G>A
ENST00000678264.1:c.*742G>A	ENSP00000503157.1:n.*742G>A
ENST00000678303.1:c.1275G>A	ENSP00000503696.1:p.Lys425=
ENST00000678366.1:c.*1614G>A	ENSP00000504353.1:n.*1614G>A
ENST00000678546.1:c.*1310G>A	ENSP00000503062.1:n.*1310G>A
ENST00000678548.1:c.*1437G>A	ENSP00000503934.1:n.*1437G>A
ENST00000678626.1:n.1062G>A
ENST00000678733.1:c.446G>A
ENST00000678739.1:c.*1691G>A	ENSP00000503806.1:n.*1691G>A
ENST00000678795.1:n.452G>A
ENST00000678833.1:c.*812G>A	ENSP00000503893.1:n.*812G>A
ENST00000678942.1:c.545G>A	ENSP00000504690.1:n.545G>A
ENST00000679023.1:c.1203G>A	ENSP00000503718.1:p.Lys401=
ENST00000679076.1:c.984G>A
ENST00000679111.1:c.1365G>A	ENSP00000504257.1:p.Lys455=
ENST00000679189.1:c.1014G>A	ENSP00000503356.1:p.Lys338=
ENST00000341012.11:c.1203G>A	ENSP00000343034.7:p.Lys401=
ENST00000372220.4:c.228G>A	ENSP00000361294.4:p.Lys76=
ENST00000372228.7:c.1431G>A	ENSP00000361302.3:p.Lys477=
ENST00000402686.7:c.1365G>A	ENSP00000385797.3:p.Lys455=
ENST00000404875.6:c.1014G>A	ENSP00000384531.2:p.Lys338=
ENST00000423007.5:c.1365G>A	ENSP00000404119.1:p.Lys455=
ENST00000485278.5:n.1920G>A
NM_001077365.1:c.1365G>A	NP_001070833.1:p.Lys455=
NM_001077366.1:c.1203G>A	NP_001070834.1:p.Lys401=
NM_001136113.1:c.1365G>A	NP_001129585.1:p.Lys455=
NM_001136114.1:c.1014G>A	NP_001129586.1:p.Lys338=
NM_007171.3:c.1431G>A	NP_009102.3:p.Lys477=
XM_005272156.1:c.1431G>A	XP_005272213.1:p.Lys477=
XM_005272158.1:c.1269G>A	XP_005272215.1:p.Lys423=
XM_005272159.1:c.1080G>A	XP_005272216.1:p.Lys360=
XM_005272162.1:c.234G>A	XP_005272219.1:p.Lys78=
XM_006716932.1:c.1080G>A	XP_006716995.1:p.Lys360=
XM_011518140.1:c.1284G>A	XP_011516442.1:p.Lys428=
XM_011518141.1:c.1218G>A	XP_011516443.1:p.Lys406=
XM_011518142.1:c.1122G>A	XP_011516444.1:p.Lys374=
XM_011518143.1:c.1116G>A	XP_011516445.1:p.Lys372=
XM_011518144.1:c.1431G>A	XP_011516446.1:p.Lys477=
XM_011518145.1:c.975G>A	XP_011516447.1:p.Lys325=
XM_011518146.1:c.1116G>A	XP_011516448.1:p.Lys372=
XM_011518147.1:c.303G>A	XP_011516449.1:p.Lys101=
XR_929703.1:n.1607G>A
NM_001353193.1:c.1431G>A	NP_001340122.1:p.Lys477=
NM_001353194.1:c.1203G>A	NP_001340123.1:p.Lys401=
NM_001353195.1:c.1014G>A	NP_001340124.1:p.Lys338=
NM_001353196.1:c.1275G>A	NP_001340125.1:p.Lys425=
NM_001353197.1:c.1269G>A	NP_001340126.1:p.Lys423=
NM_001353198.1:c.1269G>A	NP_001340127.1:p.Lys423=
NM_001353199.1:c.1080G>A	NP_001340128.1:p.Lys360=
NM_001353200.1:c.909G>A	NP_001340129.1:p.Lys303=
NR_148391.1:n.1415G>A
NR_148392.1:n.1633G>A
NR_148393.1:n.1415G>A
NR_148394.1:n.1308G>A
NR_148395.1:n.1567G>A
NR_148396.1:n.1201G>A
NR_148397.1:n.1465G>A
NR_148398.1:n.1420G>A
NR_148399.1:n.1807G>A
NR_148400.1:n.1406G>A
XM_005272162.3:c.234G>A	XP_005272219.1:p.Lys78=
XM_006716932.2:c.1080G>A	XP_006716995.1:p.Lys360=
XM_011518140.2:c.1284G>A	XP_011516442.1:p.Lys428=
XM_011518141.2:c.1218G>A	XP_011516443.1:p.Lys406=
XM_011518142.2:c.1122G>A	XP_011516444.1:p.Lys374=
XM_011518143.2:c.1116G>A	XP_011516445.1:p.Lys372=
XM_011518145.2:c.975G>A	XP_011516447.1:p.Lys325=
XM_017014205.2:c.234G>A	XP_016869694.1:p.Lys78=
XM_024447380.1:c.234G>A	XP_024303148.1:p.Lys78=
XM_024447381.1:c.540G>A	XP_024303149.1:p.Lys180=
XM_024447382.1:c.234G>A	XP_024303150.1:p.Lys78=
XR_001746160.2:n.1535G>A
XR_001746162.2:n.1601G>A
XR_001746164.1:n.1318G>A
XR_001746166.2:n.1752G>A
NM_001077365.2:c.1365G>A MANE Select	NP_001070833.1:p.Lys455=
NM_001077366.2:c.1203G>A	NP_001070834.1:p.Lys401=
NM_001136113.2:c.1365G>A	NP_001129585.1:p.Lys455=
NM_001136114.2:c.1014G>A	NP_001129586.1:p.Lys338=
NM_001353193.2:c.1431G>A	NP_001340122.2:p.Lys477=
NM_001353194.2:c.1203G>A	NP_001340123.1:p.Lys401=
NM_001353195.2:c.1014G>A	NP_001340124.1:p.Lys338=
NM_001353196.2:c.1275G>A	NP_001340125.1:p.Lys425=
NM_001353197.2:c.1269G>A	NP_001340126.2:p.Lys423=
NM_001353198.2:c.1269G>A	NP_001340127.2:p.Lys423=
NM_001353199.2:c.1080G>A	NP_001340128.2:p.Lys360=
NM_001353200.2:c.909G>A	NP_001340129.1:p.Lys303=
NM_001374689.1:c.1353G>A	NP_001361618.1:p.Lys451=
NM_001374690.1:c.1365G>A	NP_001361619.1:p.Lys455=
NM_001374691.1:c.1014G>A	NP_001361620.1:p.Lys338=
NM_001374692.1:c.1014G>A	NP_001361621.1:p.Lys338=
NM_001374693.1:c.1014G>A	NP_001361622.1:p.Lys338=
NM_001374695.1:c.975G>A	NP_001361624.1:p.Lys325=
NM_007171.4:c.1431G>A	NP_009102.4:p.Lys477=
NR_148391.2:n.1399G>A
NR_148392.2:n.1617G>A
NR_148393.2:n.1399G>A
NR_148394.2:n.1292G>A
NR_148395.2:n.1551G>A
NR_148396.2:n.1185G>A
NR_148397.2:n.1449G>A
NR_148398.2:n.1404G>A
NR_148399.2:n.1791G>A
NR_148400.2:n.1390G>A