Canonical Allele Identifier: CA375313598

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396742C>T (hg19) ; chr9:g.131521355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521355C>T , CM000671.2:g.131521355C>T	GRCh38
NC_000009.11:g.134396742C>T , CM000671.1:g.134396742C>T	GRCh37
NC_000009.10:g.133386563C>T	NCBI36
NG_008896.1:g.23454C>T
NG_008896.2:g.23454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1546C>T	ENSP00000343034.7:p.His516Tyr
ENST00000404875.7:n.2248C>T
ENST00000423007.6:c.1765C>T	ENSP00000404119.2:p.His589Tyr
ENST00000677295.2:c.*2052C>T	ENSP00000504346.2:n.*2052C>T
ENST00000678264.2:c.*1891C>T	ENSP00000503157.2:n.*1891C>T
ENST00000682070.1:n.2173C>T
ENST00000682813.1:n.2112C>T
ENST00000683392.1:n.4455C>T
ENST00000683712.1:n.2113C>T
ENST00000683900.1:n.3608C>T
ENST00000684062.1:n.2374C>T
ENST00000684579.1:n.3554C>T
ENST00000684679.1:n.935C>T
ENST00000341012.12:c.1546C>T	ENSP00000343034.7:p.His516Tyr
ENST00000372220.5:c.577C>T	ENSP00000361294.5:p.His193Tyr
ENST00000372228.9:c.1774C>T	ENSP00000361302.3:p.His592Tyr
ENST00000402686.8:c.1708C>T MANE Select	ENSP00000385797.4:p.His570Tyr
ENST00000676640.1:c.1708C>T	ENSP00000503281.1:p.His570Tyr
ENST00000676803.1:c.769C>T	ENSP00000503093.1:p.His257Tyr
ENST00000676835.1:c.*923C>T	ENSP00000502911.1:n.*923C>T
ENST00000677029.1:c.1252C>T	ENSP00000502936.1:p.His418Tyr
ENST00000677099.1:c.*1418C>T	ENSP00000504553.1:n.*1418C>T
ENST00000677216.1:c.1357C>T	ENSP00000503772.1:p.His453Tyr
ENST00000677221.1:n.733C>T
ENST00000677295.1:c.*1085C>T	ENSP00000504346.1:n.*1085C>T
ENST00000677444.1:c.1653C>T
ENST00000677586.1:n.1075C>T
ENST00000677626.1:c.1357C>T	ENSP00000503552.1:p.His453Tyr
ENST00000677853.1:c.*716C>T	ENSP00000503488.1:n.*716C>T
ENST00000678202.1:n.867C>T
ENST00000678264.1:c.*1085C>T	ENSP00000503157.1:n.*1085C>T
ENST00000678303.1:c.1618C>T	ENSP00000503696.1:p.His540Tyr
ENST00000678366.1:c.*1957C>T	ENSP00000504353.1:n.*1957C>T
ENST00000678546.1:c.*1653C>T	ENSP00000503062.1:n.*1653C>T
ENST00000678548.1:c.*1780C>T	ENSP00000503934.1:n.*1780C>T
ENST00000678626.1:n.1544C>T
ENST00000678739.1:c.*2029C>T	ENSP00000503806.1:n.*2029C>T
ENST00000678833.1:c.*1460C>T	ENSP00000503893.1:n.*1460C>T
ENST00000679023.1:c.1546C>T	ENSP00000503718.1:p.His516Tyr
ENST00000679076.1:c.1327C>T
ENST00000679111.1:c.*464C>T	ENSP00000504257.1:n.*464C>T
ENST00000679189.1:c.1357C>T	ENSP00000503356.1:p.His453Tyr
ENST00000341012.11:c.1546C>T	ENSP00000343034.7:p.His516Tyr
ENST00000372220.4:c.571C>T	ENSP00000361294.4:p.His191Tyr
ENST00000372228.7:c.1774C>T	ENSP00000361302.3:p.His592Tyr
ENST00000402686.7:c.1708C>T	ENSP00000385797.3:p.His570Tyr
ENST00000404875.6:c.1357C>T	ENSP00000384531.2:p.His453Tyr
ENST00000423007.5:c.1708C>T	ENSP00000404119.1:p.His570Tyr
ENST00000467848.1:n.412C>T
ENST00000485278.5:n.2258C>T
ENST00000494883.1:n.251C>T
NM_001077365.1:c.1708C>T	NP_001070833.1:p.His570Tyr
NM_001077366.1:c.1546C>T	NP_001070834.1:p.His516Tyr
NM_001136113.1:c.1708C>T	NP_001129585.1:p.His570Tyr
NM_001136114.1:c.1357C>T	NP_001129586.1:p.His453Tyr
NM_007171.3:c.1774C>T	NP_009102.3:p.His592Tyr
XM_005272156.1:c.1774C>T	XP_005272213.1:p.His592Tyr
XM_005272158.1:c.1612C>T	XP_005272215.1:p.His538Tyr
XM_005272159.1:c.1423C>T	XP_005272216.1:p.His475Tyr
XM_005272162.1:c.577C>T	XP_005272219.1:p.His193Tyr
XM_006716932.1:c.1423C>T	XP_006716995.1:p.His475Tyr
XM_011518140.1:c.1627C>T	XP_011516442.1:p.His543Tyr
XM_011518141.1:c.1561C>T	XP_011516443.1:p.His521Tyr
XM_011518142.1:c.1465C>T	XP_011516444.1:p.His489Tyr
XM_011518143.1:c.1459C>T	XP_011516445.1:p.His487Tyr
XM_011518145.1:c.1318C>T	XP_011516447.1:p.His440Tyr
XM_011518147.1:c.646C>T	XP_011516449.1:p.His216Tyr
XR_929703.1:n.1950C>T
NM_001353193.1:c.1774C>T	NP_001340122.1:p.His592Tyr
NM_001353194.1:c.1546C>T	NP_001340123.1:p.His516Tyr
NM_001353195.1:c.1357C>T	NP_001340124.1:p.His453Tyr
NM_001353196.1:c.1618C>T	NP_001340125.1:p.His540Tyr
NM_001353197.1:c.1612C>T	NP_001340126.1:p.His538Tyr
NM_001353198.1:c.1612C>T	NP_001340127.1:p.His538Tyr
NM_001353199.1:c.1423C>T	NP_001340128.1:p.His475Tyr
NM_001353200.1:c.1252C>T	NP_001340129.1:p.His418Tyr
NR_148391.1:n.1758C>T
NR_148392.1:n.1976C>T
NR_148393.1:n.1897C>T
NR_148394.1:n.1651C>T
NR_148395.1:n.2049C>T
NR_148396.1:n.1683C>T
NR_148397.1:n.1808C>T
NR_148398.1:n.1763C>T
NR_148399.1:n.2289C>T
NR_148400.1:n.1888C>T
XM_005272162.3:c.577C>T	XP_005272219.1:p.His193Tyr
XM_006716932.2:c.1423C>T	XP_006716995.1:p.His475Tyr
XM_011518140.2:c.1627C>T	XP_011516442.1:p.His543Tyr
XM_011518141.2:c.1561C>T	XP_011516443.1:p.His521Tyr
XM_011518142.2:c.1465C>T	XP_011516444.1:p.His489Tyr
XM_011518143.2:c.1459C>T	XP_011516445.1:p.His487Tyr
XM_011518145.2:c.1318C>T	XP_011516447.1:p.His440Tyr
XM_017014205.2:c.577C>T	XP_016869694.1:p.His193Tyr
XM_024447380.1:c.577C>T	XP_024303148.1:p.His193Tyr
XM_024447381.1:c.883C>T	XP_024303149.1:p.His295Tyr
XM_024447382.1:c.577C>T	XP_024303150.1:p.His193Tyr
XR_001746160.2:n.1878C>T
XR_001746162.2:n.2083C>T
XR_001746164.1:n.1800C>T
XR_001746166.2:n.2095C>T
NM_001077365.2:c.1708C>T MANE Select	NP_001070833.1:p.His570Tyr
NM_001077366.2:c.1546C>T	NP_001070834.1:p.His516Tyr
NM_001136113.2:c.1708C>T	NP_001129585.1:p.His570Tyr
NM_001136114.2:c.1357C>T	NP_001129586.1:p.His453Tyr
NM_001353193.2:c.1774C>T	NP_001340122.2:p.His592Tyr
NM_001353194.2:c.1546C>T	NP_001340123.1:p.His516Tyr
NM_001353195.2:c.1357C>T	NP_001340124.1:p.His453Tyr
NM_001353196.2:c.1618C>T	NP_001340125.1:p.His540Tyr
NM_001353197.2:c.1612C>T	NP_001340126.2:p.His538Tyr
NM_001353198.2:c.1612C>T	NP_001340127.2:p.His538Tyr
NM_001353199.2:c.1423C>T	NP_001340128.2:p.His475Tyr
NM_001353200.2:c.1252C>T	NP_001340129.1:p.His418Tyr
NM_001374689.1:c.1696C>T	NP_001361618.1:p.His566Tyr
NM_001374690.1:c.1489C>T	NP_001361619.1:p.His497Tyr
NM_001374691.1:c.1357C>T	NP_001361620.1:p.His453Tyr
NM_001374692.1:c.1357C>T	NP_001361621.1:p.His453Tyr
NM_001374693.1:c.1357C>T	NP_001361622.1:p.His453Tyr
NM_001374695.1:c.1318C>T	NP_001361624.1:p.His440Tyr
NM_007171.4:c.1774C>T	NP_009102.4:p.His592Tyr
NR_148391.2:n.1742C>T
NR_148392.2:n.1960C>T
NR_148393.2:n.1881C>T
NR_148394.2:n.1635C>T
NR_148395.2:n.2033C>T
NR_148396.2:n.1667C>T
NR_148397.2:n.1792C>T
NR_148398.2:n.1747C>T
NR_148399.2:n.2273C>T
NR_148400.2:n.1872C>T