Canonical Allele Identifier: CA467424057

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522132-G-A
• MyVariant Identifiers: chr9:g.134397519G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522132G>A , CM000671.2:g.131522132G>A	GRCh38
NC_000009.11:g.134397519G>A , CM000671.1:g.134397519G>A	GRCh37
NC_000009.10:g.133387340G>A	NCBI36
NG_008896.1:g.24231G>A
NG_008896.2:g.24231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1749G>A	ENSP00000343034.7:p.Lys583=
ENST00000404875.7:n.2451G>A
ENST00000423007.6:c.1968G>A	ENSP00000404119.2:p.Lys656=
ENST00000677295.2:c.*2255G>A	ENSP00000504346.2:n.*2255G>A
ENST00000678264.2:c.*2094G>A	ENSP00000503157.2:n.*2094G>A
ENST00000682070.1:n.2291-70G>A
ENST00000682813.1:n.2315G>A
ENST00000683392.1:n.4573-70G>A
ENST00000683712.1:n.2316G>A
ENST00000683900.1:n.3811G>A
ENST00000684062.1:n.2577G>A
ENST00000684579.1:n.3757G>A
ENST00000684679.1:n.1138G>A
ENST00000341012.12:c.1749G>A	ENSP00000343034.7:p.Lys583=
ENST00000372220.5:c.780G>A	ENSP00000361294.5:p.Lys260=
ENST00000372228.9:c.1977G>A	ENSP00000361302.3:p.Lys659=
ENST00000402686.8:c.1911G>A MANE Select	ENSP00000385797.4:p.Lys637=
ENST00000676640.1:c.1911G>A	ENSP00000503281.1:p.Lys637=
ENST00000676803.1:c.972G>A	ENSP00000503093.1:p.Lys324=
ENST00000676835.1:c.*1126G>A	ENSP00000502911.1:n.*1126G>A
ENST00000677029.1:c.1455G>A	ENSP00000502936.1:p.Lys485=
ENST00000677099.1:c.*1621G>A	ENSP00000504553.1:n.*1621G>A
ENST00000677216.1:c.1560G>A	ENSP00000503772.1:p.Lys520=
ENST00000677221.1:n.936G>A
ENST00000677295.1:c.*1203-70G>A	ENSP00000504346.1:n.*1203-70G>A
ENST00000677444.1:c.1856G>A
ENST00000677586.1:n.1278G>A
ENST00000677626.1:c.1560G>A	ENSP00000503552.1:p.Lys520=
ENST00000677853.1:c.*919G>A	ENSP00000503488.1:n.*919G>A
ENST00000678202.1:n.1070G>A
ENST00000678264.1:c.*1288G>A	ENSP00000503157.1:n.*1288G>A
ENST00000678303.1:c.1821G>A	ENSP00000503696.1:p.Lys607=
ENST00000678366.1:c.*2160G>A	ENSP00000504353.1:n.*2160G>A
ENST00000678546.1:c.*1856G>A	ENSP00000503062.1:n.*1856G>A
ENST00000678548.1:c.*2050G>A	ENSP00000503934.1:n.*2050G>A
ENST00000678626.1:n.1747G>A
ENST00000678739.1:c.*2147-70G>A	ENSP00000503806.1:n.*2147-70G>A
ENST00000678833.1:c.*1663G>A	ENSP00000503893.1:n.*1663G>A
ENST00000679023.1:c.1749G>A	ENSP00000503718.1:p.Lys583=
ENST00000679076.1:c.1530G>A
ENST00000679111.1:c.*667G>A	ENSP00000504257.1:n.*667G>A
ENST00000679189.1:c.1560G>A	ENSP00000503356.1:p.Lys520=
ENST00000341012.11:c.1749G>A	ENSP00000343034.7:p.Lys583=
ENST00000372220.4:c.774G>A	ENSP00000361294.4:p.Lys258=
ENST00000372228.7:c.1977G>A	ENSP00000361302.3:p.Lys659=
ENST00000402686.7:c.1911G>A	ENSP00000385797.3:p.Lys637=
ENST00000404875.6:c.1560G>A	ENSP00000384531.2:p.Lys520=
ENST00000423007.5:c.1911G>A	ENSP00000404119.1:p.Lys637=
ENST00000485278.5:n.2461G>A
ENST00000494883.1:n.454G>A
NM_001077365.1:c.1911G>A	NP_001070833.1:p.Lys637=
NM_001077366.1:c.1749G>A	NP_001070834.1:p.Lys583=
NM_001136113.1:c.1911G>A	NP_001129585.1:p.Lys637=
NM_001136114.1:c.1560G>A	NP_001129586.1:p.Lys520=
NM_007171.3:c.1977G>A	NP_009102.3:p.Lys659=
XM_005272156.1:c.1977G>A	XP_005272213.1:p.Lys659=
XM_005272158.1:c.1815G>A	XP_005272215.1:p.Lys605=
XM_005272159.1:c.1626G>A	XP_005272216.1:p.Lys542=
XM_005272162.1:c.780G>A	XP_005272219.1:p.Lys260=
XM_006716932.1:c.1626G>A	XP_006716995.1:p.Lys542=
XM_011518140.1:c.1830G>A	XP_011516442.1:p.Lys610=
XM_011518141.1:c.1764G>A	XP_011516443.1:p.Lys588=
XM_011518142.1:c.1668G>A	XP_011516444.1:p.Lys556=
XM_011518143.1:c.1662G>A	XP_011516445.1:p.Lys554=
XM_011518145.1:c.1521G>A	XP_011516447.1:p.Lys507=
XM_011518147.1:c.849G>A	XP_011516449.1:p.Lys283=
XR_929703.1:n.2153G>A
NM_001353193.1:c.1977G>A	NP_001340122.1:p.Lys659=
NM_001353194.1:c.1749G>A	NP_001340123.1:p.Lys583=
NM_001353195.1:c.1560G>A	NP_001340124.1:p.Lys520=
NM_001353196.1:c.1821G>A	NP_001340125.1:p.Lys607=
NM_001353197.1:c.1815G>A	NP_001340126.1:p.Lys605=
NM_001353198.1:c.1815G>A	NP_001340127.1:p.Lys605=
NM_001353199.1:c.1626G>A	NP_001340128.1:p.Lys542=
NM_001353200.1:c.1455G>A	NP_001340129.1:p.Lys485=
NR_148391.1:n.1961G>A
NR_148392.1:n.2179G>A
NR_148393.1:n.2100G>A
NR_148394.1:n.1854G>A
NR_148395.1:n.2252G>A
NR_148396.1:n.1886G>A
NR_148397.1:n.2011G>A
NR_148398.1:n.1966G>A
NR_148399.1:n.2492G>A
NR_148400.1:n.2091G>A
XM_005272162.3:c.780G>A	XP_005272219.1:p.Lys260=
XM_006716932.2:c.1626G>A	XP_006716995.1:p.Lys542=
XM_011518140.2:c.1830G>A	XP_011516442.1:p.Lys610=
XM_011518141.2:c.1764G>A	XP_011516443.1:p.Lys588=
XM_011518142.2:c.1668G>A	XP_011516444.1:p.Lys556=
XM_011518143.2:c.1662G>A	XP_011516445.1:p.Lys554=
XM_011518145.2:c.1521G>A	XP_011516447.1:p.Lys507=
XM_017014205.2:c.780G>A	XP_016869694.1:p.Lys260=
XM_024447380.1:c.780G>A	XP_024303148.1:p.Lys260=
XM_024447381.1:c.1086G>A	XP_024303149.1:p.Lys362=
XM_024447382.1:c.780G>A	XP_024303150.1:p.Lys260=
XR_001746160.2:n.2081G>A
XR_001746162.2:n.2286G>A
XR_001746164.1:n.2003G>A
XR_001746166.2:n.2298G>A
NM_001077365.2:c.1911G>A MANE Select	NP_001070833.1:p.Lys637=
NM_001077366.2:c.1749G>A	NP_001070834.1:p.Lys583=
NM_001136113.2:c.1911G>A	NP_001129585.1:p.Lys637=
NM_001136114.2:c.1560G>A	NP_001129586.1:p.Lys520=
NM_001353193.2:c.1977G>A	NP_001340122.2:p.Lys659=
NM_001353194.2:c.1749G>A	NP_001340123.1:p.Lys583=
NM_001353195.2:c.1560G>A	NP_001340124.1:p.Lys520=
NM_001353196.2:c.1821G>A	NP_001340125.1:p.Lys607=
NM_001353197.2:c.1815G>A	NP_001340126.2:p.Lys605=
NM_001353198.2:c.1815G>A	NP_001340127.2:p.Lys605=
NM_001353199.2:c.1626G>A	NP_001340128.2:p.Lys542=
NM_001353200.2:c.1455G>A	NP_001340129.1:p.Lys485=
NM_001374689.1:c.1899G>A	NP_001361618.1:p.Lys633=
NM_001374690.1:c.1692G>A	NP_001361619.1:p.Lys564=
NM_001374691.1:c.1560G>A	NP_001361620.1:p.Lys520=
NM_001374692.1:c.1560G>A	NP_001361621.1:p.Lys520=
NM_001374693.1:c.1560G>A	NP_001361622.1:p.Lys520=
NM_001374695.1:c.1521G>A	NP_001361624.1:p.Lys507=
NM_007171.4:c.1977G>A	NP_009102.4:p.Lys659=
NR_148391.2:n.1945G>A
NR_148392.2:n.2163G>A
NR_148393.2:n.2084G>A
NR_148394.2:n.1838G>A
NR_148395.2:n.2236G>A
NR_148396.2:n.1870G>A
NR_148397.2:n.1995G>A
NR_148398.2:n.1950G>A
NR_148399.2:n.2476G>A
NR_148400.2:n.2075G>A