Canonical Allele Identifier: CA467424034

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397477T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522090T>G , CM000671.2:g.131522090T>G	GRCh38
NC_000009.11:g.134397477T>G , CM000671.1:g.134397477T>G	GRCh37
NC_000009.10:g.133387298T>G	NCBI36
NG_008896.1:g.24189T>G
NG_008896.2:g.24189T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1707T>G	ENSP00000343034.7:p.Gly569=
ENST00000404875.7:n.2409T>G
ENST00000423007.6:c.1926T>G	ENSP00000404119.2:p.Gly642=
ENST00000677295.2:c.*2213T>G	ENSP00000504346.2:n.*2213T>G
ENST00000678264.2:c.*2052T>G	ENSP00000503157.2:n.*2052T>G
ENST00000682070.1:n.2291-112T>G
ENST00000682813.1:n.2273T>G
ENST00000683392.1:n.4573-112T>G
ENST00000683712.1:n.2274T>G
ENST00000683900.1:n.3769T>G
ENST00000684062.1:n.2535T>G
ENST00000684579.1:n.3715T>G
ENST00000684679.1:n.1096T>G
ENST00000341012.12:c.1707T>G	ENSP00000343034.7:p.Gly569=
ENST00000372220.5:c.738T>G	ENSP00000361294.5:p.Gly246=
ENST00000372228.9:c.1935T>G	ENSP00000361302.3:p.Gly645=
ENST00000402686.8:c.1869T>G MANE Select	ENSP00000385797.4:p.Gly623=
ENST00000676640.1:c.1869T>G	ENSP00000503281.1:p.Gly623=
ENST00000676803.1:c.930T>G	ENSP00000503093.1:p.Gly310=
ENST00000676835.1:c.*1084T>G	ENSP00000502911.1:n.*1084T>G
ENST00000677029.1:c.1413T>G	ENSP00000502936.1:p.Gly471=
ENST00000677099.1:c.*1579T>G	ENSP00000504553.1:n.*1579T>G
ENST00000677216.1:c.1518T>G	ENSP00000503772.1:p.Gly506=
ENST00000677221.1:n.894T>G
ENST00000677295.1:c.*1203-112T>G	ENSP00000504346.1:n.*1203-112T>G
ENST00000677444.1:c.1814T>G
ENST00000677586.1:n.1236T>G
ENST00000677626.1:c.1518T>G	ENSP00000503552.1:p.Gly506=
ENST00000677853.1:c.*877T>G	ENSP00000503488.1:n.*877T>G
ENST00000678202.1:n.1028T>G
ENST00000678264.1:c.*1246T>G	ENSP00000503157.1:n.*1246T>G
ENST00000678303.1:c.1779T>G	ENSP00000503696.1:p.Gly593=
ENST00000678366.1:c.*2118T>G	ENSP00000504353.1:n.*2118T>G
ENST00000678546.1:c.*1814T>G	ENSP00000503062.1:n.*1814T>G
ENST00000678548.1:c.*2008T>G	ENSP00000503934.1:n.*2008T>G
ENST00000678626.1:n.1705T>G
ENST00000678739.1:c.*2147-112T>G	ENSP00000503806.1:n.*2147-112T>G
ENST00000678833.1:c.*1621T>G	ENSP00000503893.1:n.*1621T>G
ENST00000679023.1:c.1707T>G	ENSP00000503718.1:p.Gly569=
ENST00000679076.1:c.1488T>G
ENST00000679111.1:c.*625T>G	ENSP00000504257.1:n.*625T>G
ENST00000679189.1:c.1518T>G	ENSP00000503356.1:p.Gly506=
ENST00000341012.11:c.1707T>G	ENSP00000343034.7:p.Gly569=
ENST00000372220.4:c.732T>G	ENSP00000361294.4:p.Gly244=
ENST00000372228.7:c.1935T>G	ENSP00000361302.3:p.Gly645=
ENST00000402686.7:c.1869T>G	ENSP00000385797.3:p.Gly623=
ENST00000404875.6:c.1518T>G	ENSP00000384531.2:p.Gly506=
ENST00000423007.5:c.1869T>G	ENSP00000404119.1:p.Gly623=
ENST00000485278.5:n.2419T>G
ENST00000494883.1:n.412T>G
NM_001077365.1:c.1869T>G	NP_001070833.1:p.Gly623=
NM_001077366.1:c.1707T>G	NP_001070834.1:p.Gly569=
NM_001136113.1:c.1869T>G	NP_001129585.1:p.Gly623=
NM_001136114.1:c.1518T>G	NP_001129586.1:p.Gly506=
NM_007171.3:c.1935T>G	NP_009102.3:p.Gly645=
XM_005272156.1:c.1935T>G	XP_005272213.1:p.Gly645=
XM_005272158.1:c.1773T>G	XP_005272215.1:p.Gly591=
XM_005272159.1:c.1584T>G	XP_005272216.1:p.Gly528=
XM_005272162.1:c.738T>G	XP_005272219.1:p.Gly246=
XM_006716932.1:c.1584T>G	XP_006716995.1:p.Gly528=
XM_011518140.1:c.1788T>G	XP_011516442.1:p.Gly596=
XM_011518141.1:c.1722T>G	XP_011516443.1:p.Gly574=
XM_011518142.1:c.1626T>G	XP_011516444.1:p.Gly542=
XM_011518143.1:c.1620T>G	XP_011516445.1:p.Gly540=
XM_011518145.1:c.1479T>G	XP_011516447.1:p.Gly493=
XM_011518147.1:c.807T>G	XP_011516449.1:p.Gly269=
XR_929703.1:n.2111T>G
NM_001353193.1:c.1935T>G	NP_001340122.1:p.Gly645=
NM_001353194.1:c.1707T>G	NP_001340123.1:p.Gly569=
NM_001353195.1:c.1518T>G	NP_001340124.1:p.Gly506=
NM_001353196.1:c.1779T>G	NP_001340125.1:p.Gly593=
NM_001353197.1:c.1773T>G	NP_001340126.1:p.Gly591=
NM_001353198.1:c.1773T>G	NP_001340127.1:p.Gly591=
NM_001353199.1:c.1584T>G	NP_001340128.1:p.Gly528=
NM_001353200.1:c.1413T>G	NP_001340129.1:p.Gly471=
NR_148391.1:n.1919T>G
NR_148392.1:n.2137T>G
NR_148393.1:n.2058T>G
NR_148394.1:n.1812T>G
NR_148395.1:n.2210T>G
NR_148396.1:n.1844T>G
NR_148397.1:n.1969T>G
NR_148398.1:n.1924T>G
NR_148399.1:n.2450T>G
NR_148400.1:n.2049T>G
XM_005272162.3:c.738T>G	XP_005272219.1:p.Gly246=
XM_006716932.2:c.1584T>G	XP_006716995.1:p.Gly528=
XM_011518140.2:c.1788T>G	XP_011516442.1:p.Gly596=
XM_011518141.2:c.1722T>G	XP_011516443.1:p.Gly574=
XM_011518142.2:c.1626T>G	XP_011516444.1:p.Gly542=
XM_011518143.2:c.1620T>G	XP_011516445.1:p.Gly540=
XM_011518145.2:c.1479T>G	XP_011516447.1:p.Gly493=
XM_017014205.2:c.738T>G	XP_016869694.1:p.Gly246=
XM_024447380.1:c.738T>G	XP_024303148.1:p.Gly246=
XM_024447381.1:c.1044T>G	XP_024303149.1:p.Gly348=
XM_024447382.1:c.738T>G	XP_024303150.1:p.Gly246=
XR_001746160.2:n.2039T>G
XR_001746162.2:n.2244T>G
XR_001746164.1:n.1961T>G
XR_001746166.2:n.2256T>G
NM_001077365.2:c.1869T>G MANE Select	NP_001070833.1:p.Gly623=
NM_001077366.2:c.1707T>G	NP_001070834.1:p.Gly569=
NM_001136113.2:c.1869T>G	NP_001129585.1:p.Gly623=
NM_001136114.2:c.1518T>G	NP_001129586.1:p.Gly506=
NM_001353193.2:c.1935T>G	NP_001340122.2:p.Gly645=
NM_001353194.2:c.1707T>G	NP_001340123.1:p.Gly569=
NM_001353195.2:c.1518T>G	NP_001340124.1:p.Gly506=
NM_001353196.2:c.1779T>G	NP_001340125.1:p.Gly593=
NM_001353197.2:c.1773T>G	NP_001340126.2:p.Gly591=
NM_001353198.2:c.1773T>G	NP_001340127.2:p.Gly591=
NM_001353199.2:c.1584T>G	NP_001340128.2:p.Gly528=
NM_001353200.2:c.1413T>G	NP_001340129.1:p.Gly471=
NM_001374689.1:c.1857T>G	NP_001361618.1:p.Gly619=
NM_001374690.1:c.1650T>G	NP_001361619.1:p.Gly550=
NM_001374691.1:c.1518T>G	NP_001361620.1:p.Gly506=
NM_001374692.1:c.1518T>G	NP_001361621.1:p.Gly506=
NM_001374693.1:c.1518T>G	NP_001361622.1:p.Gly506=
NM_001374695.1:c.1479T>G	NP_001361624.1:p.Gly493=
NM_007171.4:c.1935T>G	NP_009102.4:p.Gly645=
NR_148391.2:n.1903T>G
NR_148392.2:n.2121T>G
NR_148393.2:n.2042T>G
NR_148394.2:n.1796T>G
NR_148395.2:n.2194T>G
NR_148396.2:n.1828T>G
NR_148397.2:n.1953T>G
NR_148398.2:n.1908T>G
NR_148399.2:n.2434T>G
NR_148400.2:n.2033T>G