Canonical Allele Identifier: CA467424028

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397468G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522081G>A , CM000671.2:g.131522081G>A	GRCh38
NC_000009.11:g.134397468G>A , CM000671.1:g.134397468G>A	GRCh37
NC_000009.10:g.133387289G>A	NCBI36
NG_008896.1:g.24180G>A
NG_008896.2:g.24180G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1698G>A	ENSP00000343034.7:p.Leu566=
ENST00000404875.7:n.2400G>A
ENST00000423007.6:c.1917G>A	ENSP00000404119.2:p.Leu639=
ENST00000677295.2:c.*2204G>A	ENSP00000504346.2:n.*2204G>A
ENST00000678264.2:c.*2043G>A	ENSP00000503157.2:n.*2043G>A
ENST00000682070.1:n.2291-121G>A
ENST00000682813.1:n.2264G>A
ENST00000683392.1:n.4573-121G>A
ENST00000683712.1:n.2265G>A
ENST00000683900.1:n.3760G>A
ENST00000684062.1:n.2526G>A
ENST00000684579.1:n.3706G>A
ENST00000684679.1:n.1087G>A
ENST00000341012.12:c.1698G>A	ENSP00000343034.7:p.Leu566=
ENST00000372220.5:c.729G>A	ENSP00000361294.5:p.Leu243=
ENST00000372228.9:c.1926G>A	ENSP00000361302.3:p.Leu642=
ENST00000402686.8:c.1860G>A MANE Select	ENSP00000385797.4:p.Leu620=
ENST00000676640.1:c.1860G>A	ENSP00000503281.1:p.Leu620=
ENST00000676803.1:c.921G>A	ENSP00000503093.1:p.Leu307=
ENST00000676835.1:c.*1075G>A	ENSP00000502911.1:n.*1075G>A
ENST00000677029.1:c.1404G>A	ENSP00000502936.1:p.Leu468=
ENST00000677099.1:c.*1570G>A	ENSP00000504553.1:n.*1570G>A
ENST00000677216.1:c.1509G>A	ENSP00000503772.1:p.Leu503=
ENST00000677221.1:n.885G>A
ENST00000677295.1:c.*1203-121G>A	ENSP00000504346.1:n.*1203-121G>A
ENST00000677444.1:c.1805G>A
ENST00000677586.1:n.1227G>A
ENST00000677626.1:c.1509G>A	ENSP00000503552.1:p.Leu503=
ENST00000677853.1:c.*868G>A	ENSP00000503488.1:n.*868G>A
ENST00000678202.1:n.1019G>A
ENST00000678264.1:c.*1237G>A	ENSP00000503157.1:n.*1237G>A
ENST00000678303.1:c.1770G>A	ENSP00000503696.1:p.Leu590=
ENST00000678366.1:c.*2109G>A	ENSP00000504353.1:n.*2109G>A
ENST00000678546.1:c.*1805G>A	ENSP00000503062.1:n.*1805G>A
ENST00000678548.1:c.*1999G>A	ENSP00000503934.1:n.*1999G>A
ENST00000678626.1:n.1696G>A
ENST00000678739.1:c.*2147-121G>A	ENSP00000503806.1:n.*2147-121G>A
ENST00000678833.1:c.*1612G>A	ENSP00000503893.1:n.*1612G>A
ENST00000679023.1:c.1698G>A	ENSP00000503718.1:p.Leu566=
ENST00000679076.1:c.1479G>A
ENST00000679111.1:c.*616G>A	ENSP00000504257.1:n.*616G>A
ENST00000679189.1:c.1509G>A	ENSP00000503356.1:p.Leu503=
ENST00000341012.11:c.1698G>A	ENSP00000343034.7:p.Leu566=
ENST00000372220.4:c.723G>A	ENSP00000361294.4:p.Leu241=
ENST00000372228.7:c.1926G>A	ENSP00000361302.3:p.Leu642=
ENST00000402686.7:c.1860G>A	ENSP00000385797.3:p.Leu620=
ENST00000404875.6:c.1509G>A	ENSP00000384531.2:p.Leu503=
ENST00000423007.5:c.1860G>A	ENSP00000404119.1:p.Leu620=
ENST00000485278.5:n.2410G>A
ENST00000494883.1:n.403G>A
NM_001077365.1:c.1860G>A	NP_001070833.1:p.Leu620=
NM_001077366.1:c.1698G>A	NP_001070834.1:p.Leu566=
NM_001136113.1:c.1860G>A	NP_001129585.1:p.Leu620=
NM_001136114.1:c.1509G>A	NP_001129586.1:p.Leu503=
NM_007171.3:c.1926G>A	NP_009102.3:p.Leu642=
XM_005272156.1:c.1926G>A	XP_005272213.1:p.Leu642=
XM_005272158.1:c.1764G>A	XP_005272215.1:p.Leu588=
XM_005272159.1:c.1575G>A	XP_005272216.1:p.Leu525=
XM_005272162.1:c.729G>A	XP_005272219.1:p.Leu243=
XM_006716932.1:c.1575G>A	XP_006716995.1:p.Leu525=
XM_011518140.1:c.1779G>A	XP_011516442.1:p.Leu593=
XM_011518141.1:c.1713G>A	XP_011516443.1:p.Leu571=
XM_011518142.1:c.1617G>A	XP_011516444.1:p.Leu539=
XM_011518143.1:c.1611G>A	XP_011516445.1:p.Leu537=
XM_011518145.1:c.1470G>A	XP_011516447.1:p.Leu490=
XM_011518147.1:c.798G>A	XP_011516449.1:p.Leu266=
XR_929703.1:n.2102G>A
NM_001353193.1:c.1926G>A	NP_001340122.1:p.Leu642=
NM_001353194.1:c.1698G>A	NP_001340123.1:p.Leu566=
NM_001353195.1:c.1509G>A	NP_001340124.1:p.Leu503=
NM_001353196.1:c.1770G>A	NP_001340125.1:p.Leu590=
NM_001353197.1:c.1764G>A	NP_001340126.1:p.Leu588=
NM_001353198.1:c.1764G>A	NP_001340127.1:p.Leu588=
NM_001353199.1:c.1575G>A	NP_001340128.1:p.Leu525=
NM_001353200.1:c.1404G>A	NP_001340129.1:p.Leu468=
NR_148391.1:n.1910G>A
NR_148392.1:n.2128G>A
NR_148393.1:n.2049G>A
NR_148394.1:n.1803G>A
NR_148395.1:n.2201G>A
NR_148396.1:n.1835G>A
NR_148397.1:n.1960G>A
NR_148398.1:n.1915G>A
NR_148399.1:n.2441G>A
NR_148400.1:n.2040G>A
XM_005272162.3:c.729G>A	XP_005272219.1:p.Leu243=
XM_006716932.2:c.1575G>A	XP_006716995.1:p.Leu525=
XM_011518140.2:c.1779G>A	XP_011516442.1:p.Leu593=
XM_011518141.2:c.1713G>A	XP_011516443.1:p.Leu571=
XM_011518142.2:c.1617G>A	XP_011516444.1:p.Leu539=
XM_011518143.2:c.1611G>A	XP_011516445.1:p.Leu537=
XM_011518145.2:c.1470G>A	XP_011516447.1:p.Leu490=
XM_017014205.2:c.729G>A	XP_016869694.1:p.Leu243=
XM_024447380.1:c.729G>A	XP_024303148.1:p.Leu243=
XM_024447381.1:c.1035G>A	XP_024303149.1:p.Leu345=
XM_024447382.1:c.729G>A	XP_024303150.1:p.Leu243=
XR_001746160.2:n.2030G>A
XR_001746162.2:n.2235G>A
XR_001746164.1:n.1952G>A
XR_001746166.2:n.2247G>A
NM_001077365.2:c.1860G>A MANE Select	NP_001070833.1:p.Leu620=
NM_001077366.2:c.1698G>A	NP_001070834.1:p.Leu566=
NM_001136113.2:c.1860G>A	NP_001129585.1:p.Leu620=
NM_001136114.2:c.1509G>A	NP_001129586.1:p.Leu503=
NM_001353193.2:c.1926G>A	NP_001340122.2:p.Leu642=
NM_001353194.2:c.1698G>A	NP_001340123.1:p.Leu566=
NM_001353195.2:c.1509G>A	NP_001340124.1:p.Leu503=
NM_001353196.2:c.1770G>A	NP_001340125.1:p.Leu590=
NM_001353197.2:c.1764G>A	NP_001340126.2:p.Leu588=
NM_001353198.2:c.1764G>A	NP_001340127.2:p.Leu588=
NM_001353199.2:c.1575G>A	NP_001340128.2:p.Leu525=
NM_001353200.2:c.1404G>A	NP_001340129.1:p.Leu468=
NM_001374689.1:c.1848G>A	NP_001361618.1:p.Leu616=
NM_001374690.1:c.1641G>A	NP_001361619.1:p.Leu547=
NM_001374691.1:c.1509G>A	NP_001361620.1:p.Leu503=
NM_001374692.1:c.1509G>A	NP_001361621.1:p.Leu503=
NM_001374693.1:c.1509G>A	NP_001361622.1:p.Leu503=
NM_001374695.1:c.1470G>A	NP_001361624.1:p.Leu490=
NM_007171.4:c.1926G>A	NP_009102.4:p.Leu642=
NR_148391.2:n.1894G>A
NR_148392.2:n.2112G>A
NR_148393.2:n.2033G>A
NR_148394.2:n.1787G>A
NR_148395.2:n.2185G>A
NR_148396.2:n.1819G>A
NR_148397.2:n.1944G>A
NR_148398.2:n.1899G>A
NR_148399.2:n.2425G>A
NR_148400.2:n.2024G>A