Canonical Allele Identifier: CA467423815

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396750T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521363T>C , CM000671.2:g.131521363T>C	GRCh38
NC_000009.11:g.134396750T>C , CM000671.1:g.134396750T>C	GRCh37
NC_000009.10:g.133386571T>C	NCBI36
NG_008896.1:g.23462T>C
NG_008896.2:g.23462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1554T>C	ENSP00000343034.7:p.Leu518=
ENST00000404875.7:n.2256T>C
ENST00000423007.6:c.1773T>C	ENSP00000404119.2:p.Leu591=
ENST00000677295.2:c.*2060T>C	ENSP00000504346.2:n.*2060T>C
ENST00000678264.2:c.*1899T>C	ENSP00000503157.2:n.*1899T>C
ENST00000682070.1:n.2181T>C
ENST00000682813.1:n.2120T>C
ENST00000683392.1:n.4463T>C
ENST00000683712.1:n.2121T>C
ENST00000683900.1:n.3616T>C
ENST00000684062.1:n.2382T>C
ENST00000684579.1:n.3562T>C
ENST00000684679.1:n.943T>C
ENST00000341012.12:c.1554T>C	ENSP00000343034.7:p.Leu518=
ENST00000372220.5:c.585T>C	ENSP00000361294.5:p.Leu195=
ENST00000372228.9:c.1782T>C	ENSP00000361302.3:p.Leu594=
ENST00000402686.8:c.1716T>C MANE Select	ENSP00000385797.4:p.Leu572=
ENST00000676640.1:c.1716T>C	ENSP00000503281.1:p.Leu572=
ENST00000676803.1:c.777T>C	ENSP00000503093.1:p.Leu259=
ENST00000676835.1:c.*931T>C	ENSP00000502911.1:n.*931T>C
ENST00000677029.1:c.1260T>C	ENSP00000502936.1:p.Leu420=
ENST00000677099.1:c.*1426T>C	ENSP00000504553.1:n.*1426T>C
ENST00000677216.1:c.1365T>C	ENSP00000503772.1:p.Leu455=
ENST00000677221.1:n.741T>C
ENST00000677295.1:c.*1093T>C	ENSP00000504346.1:n.*1093T>C
ENST00000677444.1:c.1661T>C
ENST00000677586.1:n.1083T>C
ENST00000677626.1:c.1365T>C	ENSP00000503552.1:p.Leu455=
ENST00000677853.1:c.*724T>C	ENSP00000503488.1:n.*724T>C
ENST00000678202.1:n.875T>C
ENST00000678264.1:c.*1093T>C	ENSP00000503157.1:n.*1093T>C
ENST00000678303.1:c.1626T>C	ENSP00000503696.1:p.Leu542=
ENST00000678366.1:c.*1965T>C	ENSP00000504353.1:n.*1965T>C
ENST00000678546.1:c.*1661T>C	ENSP00000503062.1:n.*1661T>C
ENST00000678548.1:c.*1788T>C	ENSP00000503934.1:n.*1788T>C
ENST00000678626.1:n.1552T>C
ENST00000678739.1:c.*2037T>C	ENSP00000503806.1:n.*2037T>C
ENST00000678833.1:c.*1468T>C	ENSP00000503893.1:n.*1468T>C
ENST00000679023.1:c.1554T>C	ENSP00000503718.1:p.Leu518=
ENST00000679076.1:c.1335T>C
ENST00000679111.1:c.*472T>C	ENSP00000504257.1:n.*472T>C
ENST00000679189.1:c.1365T>C	ENSP00000503356.1:p.Leu455=
ENST00000341012.11:c.1554T>C	ENSP00000343034.7:p.Leu518=
ENST00000372220.4:c.579T>C	ENSP00000361294.4:p.Leu193=
ENST00000372228.7:c.1782T>C	ENSP00000361302.3:p.Leu594=
ENST00000402686.7:c.1716T>C	ENSP00000385797.3:p.Leu572=
ENST00000404875.6:c.1365T>C	ENSP00000384531.2:p.Leu455=
ENST00000423007.5:c.1716T>C	ENSP00000404119.1:p.Leu572=
ENST00000467848.1:n.420T>C
ENST00000485278.5:n.2266T>C
ENST00000494883.1:n.259T>C
NM_001077365.1:c.1716T>C	NP_001070833.1:p.Leu572=
NM_001077366.1:c.1554T>C	NP_001070834.1:p.Leu518=
NM_001136113.1:c.1716T>C	NP_001129585.1:p.Leu572=
NM_001136114.1:c.1365T>C	NP_001129586.1:p.Leu455=
NM_007171.3:c.1782T>C	NP_009102.3:p.Leu594=
XM_005272156.1:c.1782T>C	XP_005272213.1:p.Leu594=
XM_005272158.1:c.1620T>C	XP_005272215.1:p.Leu540=
XM_005272159.1:c.1431T>C	XP_005272216.1:p.Leu477=
XM_005272162.1:c.585T>C	XP_005272219.1:p.Leu195=
XM_006716932.1:c.1431T>C	XP_006716995.1:p.Leu477=
XM_011518140.1:c.1635T>C	XP_011516442.1:p.Leu545=
XM_011518141.1:c.1569T>C	XP_011516443.1:p.Leu523=
XM_011518142.1:c.1473T>C	XP_011516444.1:p.Leu491=
XM_011518143.1:c.1467T>C	XP_011516445.1:p.Leu489=
XM_011518145.1:c.1326T>C	XP_011516447.1:p.Leu442=
XM_011518147.1:c.654T>C	XP_011516449.1:p.Leu218=
XR_929703.1:n.1958T>C
NM_001353193.1:c.1782T>C	NP_001340122.1:p.Leu594=
NM_001353194.1:c.1554T>C	NP_001340123.1:p.Leu518=
NM_001353195.1:c.1365T>C	NP_001340124.1:p.Leu455=
NM_001353196.1:c.1626T>C	NP_001340125.1:p.Leu542=
NM_001353197.1:c.1620T>C	NP_001340126.1:p.Leu540=
NM_001353198.1:c.1620T>C	NP_001340127.1:p.Leu540=
NM_001353199.1:c.1431T>C	NP_001340128.1:p.Leu477=
NM_001353200.1:c.1260T>C	NP_001340129.1:p.Leu420=
NR_148391.1:n.1766T>C
NR_148392.1:n.1984T>C
NR_148393.1:n.1905T>C
NR_148394.1:n.1659T>C
NR_148395.1:n.2057T>C
NR_148396.1:n.1691T>C
NR_148397.1:n.1816T>C
NR_148398.1:n.1771T>C
NR_148399.1:n.2297T>C
NR_148400.1:n.1896T>C
XM_005272162.3:c.585T>C	XP_005272219.1:p.Leu195=
XM_006716932.2:c.1431T>C	XP_006716995.1:p.Leu477=
XM_011518140.2:c.1635T>C	XP_011516442.1:p.Leu545=
XM_011518141.2:c.1569T>C	XP_011516443.1:p.Leu523=
XM_011518142.2:c.1473T>C	XP_011516444.1:p.Leu491=
XM_011518143.2:c.1467T>C	XP_011516445.1:p.Leu489=
XM_011518145.2:c.1326T>C	XP_011516447.1:p.Leu442=
XM_017014205.2:c.585T>C	XP_016869694.1:p.Leu195=
XM_024447380.1:c.585T>C	XP_024303148.1:p.Leu195=
XM_024447381.1:c.891T>C	XP_024303149.1:p.Leu297=
XM_024447382.1:c.585T>C	XP_024303150.1:p.Leu195=
XR_001746160.2:n.1886T>C
XR_001746162.2:n.2091T>C
XR_001746164.1:n.1808T>C
XR_001746166.2:n.2103T>C
NM_001077365.2:c.1716T>C MANE Select	NP_001070833.1:p.Leu572=
NM_001077366.2:c.1554T>C	NP_001070834.1:p.Leu518=
NM_001136113.2:c.1716T>C	NP_001129585.1:p.Leu572=
NM_001136114.2:c.1365T>C	NP_001129586.1:p.Leu455=
NM_001353193.2:c.1782T>C	NP_001340122.2:p.Leu594=
NM_001353194.2:c.1554T>C	NP_001340123.1:p.Leu518=
NM_001353195.2:c.1365T>C	NP_001340124.1:p.Leu455=
NM_001353196.2:c.1626T>C	NP_001340125.1:p.Leu542=
NM_001353197.2:c.1620T>C	NP_001340126.2:p.Leu540=
NM_001353198.2:c.1620T>C	NP_001340127.2:p.Leu540=
NM_001353199.2:c.1431T>C	NP_001340128.2:p.Leu477=
NM_001353200.2:c.1260T>C	NP_001340129.1:p.Leu420=
NM_001374689.1:c.1704T>C	NP_001361618.1:p.Leu568=
NM_001374690.1:c.1497T>C	NP_001361619.1:p.Leu499=
NM_001374691.1:c.1365T>C	NP_001361620.1:p.Leu455=
NM_001374692.1:c.1365T>C	NP_001361621.1:p.Leu455=
NM_001374693.1:c.1365T>C	NP_001361622.1:p.Leu455=
NM_001374695.1:c.1326T>C	NP_001361624.1:p.Leu442=
NM_007171.4:c.1782T>C	NP_009102.4:p.Leu594=
NR_148391.2:n.1750T>C
NR_148392.2:n.1968T>C
NR_148393.2:n.1889T>C
NR_148394.2:n.1643T>C
NR_148395.2:n.2041T>C
NR_148396.2:n.1675T>C
NR_148397.2:n.1800T>C
NR_148398.2:n.1755T>C
NR_148399.2:n.2281T>C
NR_148400.2:n.1880T>C