Canonical Allele Identifier: CA375313608

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396744C>G (hg19) ; chr9:g.131521357C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521357C>G , CM000671.2:g.131521357C>G	GRCh38
NC_000009.11:g.134396744C>G , CM000671.1:g.134396744C>G	GRCh37
NC_000009.10:g.133386565C>G	NCBI36
NG_008896.1:g.23456C>G
NG_008896.2:g.23456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1548C>G	ENSP00000343034.7:p.His516Gln
ENST00000404875.7:n.2250C>G
ENST00000423007.6:c.1767C>G	ENSP00000404119.2:p.His589Gln
ENST00000677295.2:c.*2054C>G	ENSP00000504346.2:n.*2054C>G
ENST00000678264.2:c.*1893C>G	ENSP00000503157.2:n.*1893C>G
ENST00000682070.1:n.2175C>G
ENST00000682813.1:n.2114C>G
ENST00000683392.1:n.4457C>G
ENST00000683712.1:n.2115C>G
ENST00000683900.1:n.3610C>G
ENST00000684062.1:n.2376C>G
ENST00000684579.1:n.3556C>G
ENST00000684679.1:n.937C>G
ENST00000341012.12:c.1548C>G	ENSP00000343034.7:p.His516Gln
ENST00000372220.5:c.579C>G	ENSP00000361294.5:p.His193Gln
ENST00000372228.9:c.1776C>G	ENSP00000361302.3:p.His592Gln
ENST00000402686.8:c.1710C>G MANE Select	ENSP00000385797.4:p.His570Gln
ENST00000676640.1:c.1710C>G	ENSP00000503281.1:p.His570Gln
ENST00000676803.1:c.771C>G	ENSP00000503093.1:p.His257Gln
ENST00000676835.1:c.*925C>G	ENSP00000502911.1:n.*925C>G
ENST00000677029.1:c.1254C>G	ENSP00000502936.1:p.His418Gln
ENST00000677099.1:c.*1420C>G	ENSP00000504553.1:n.*1420C>G
ENST00000677216.1:c.1359C>G	ENSP00000503772.1:p.His453Gln
ENST00000677221.1:n.735C>G
ENST00000677295.1:c.*1087C>G	ENSP00000504346.1:n.*1087C>G
ENST00000677444.1:c.1655C>G
ENST00000677586.1:n.1077C>G
ENST00000677626.1:c.1359C>G	ENSP00000503552.1:p.His453Gln
ENST00000677853.1:c.*718C>G	ENSP00000503488.1:n.*718C>G
ENST00000678202.1:n.869C>G
ENST00000678264.1:c.*1087C>G	ENSP00000503157.1:n.*1087C>G
ENST00000678303.1:c.1620C>G	ENSP00000503696.1:p.His540Gln
ENST00000678366.1:c.*1959C>G	ENSP00000504353.1:n.*1959C>G
ENST00000678546.1:c.*1655C>G	ENSP00000503062.1:n.*1655C>G
ENST00000678548.1:c.*1782C>G	ENSP00000503934.1:n.*1782C>G
ENST00000678626.1:n.1546C>G
ENST00000678739.1:c.*2031C>G	ENSP00000503806.1:n.*2031C>G
ENST00000678833.1:c.*1462C>G	ENSP00000503893.1:n.*1462C>G
ENST00000679023.1:c.1548C>G	ENSP00000503718.1:p.His516Gln
ENST00000679076.1:c.1329C>G
ENST00000679111.1:c.*466C>G	ENSP00000504257.1:n.*466C>G
ENST00000679189.1:c.1359C>G	ENSP00000503356.1:p.His453Gln
ENST00000341012.11:c.1548C>G	ENSP00000343034.7:p.His516Gln
ENST00000372220.4:c.573C>G	ENSP00000361294.4:p.His191Gln
ENST00000372228.7:c.1776C>G	ENSP00000361302.3:p.His592Gln
ENST00000402686.7:c.1710C>G	ENSP00000385797.3:p.His570Gln
ENST00000404875.6:c.1359C>G	ENSP00000384531.2:p.His453Gln
ENST00000423007.5:c.1710C>G	ENSP00000404119.1:p.His570Gln
ENST00000467848.1:n.414C>G
ENST00000485278.5:n.2260C>G
ENST00000494883.1:n.253C>G
NM_001077365.1:c.1710C>G	NP_001070833.1:p.His570Gln
NM_001077366.1:c.1548C>G	NP_001070834.1:p.His516Gln
NM_001136113.1:c.1710C>G	NP_001129585.1:p.His570Gln
NM_001136114.1:c.1359C>G	NP_001129586.1:p.His453Gln
NM_007171.3:c.1776C>G	NP_009102.3:p.His592Gln
XM_005272156.1:c.1776C>G	XP_005272213.1:p.His592Gln
XM_005272158.1:c.1614C>G	XP_005272215.1:p.His538Gln
XM_005272159.1:c.1425C>G	XP_005272216.1:p.His475Gln
XM_005272162.1:c.579C>G	XP_005272219.1:p.His193Gln
XM_006716932.1:c.1425C>G	XP_006716995.1:p.His475Gln
XM_011518140.1:c.1629C>G	XP_011516442.1:p.His543Gln
XM_011518141.1:c.1563C>G	XP_011516443.1:p.His521Gln
XM_011518142.1:c.1467C>G	XP_011516444.1:p.His489Gln
XM_011518143.1:c.1461C>G	XP_011516445.1:p.His487Gln
XM_011518145.1:c.1320C>G	XP_011516447.1:p.His440Gln
XM_011518147.1:c.648C>G	XP_011516449.1:p.His216Gln
XR_929703.1:n.1952C>G
NM_001353193.1:c.1776C>G	NP_001340122.1:p.His592Gln
NM_001353194.1:c.1548C>G	NP_001340123.1:p.His516Gln
NM_001353195.1:c.1359C>G	NP_001340124.1:p.His453Gln
NM_001353196.1:c.1620C>G	NP_001340125.1:p.His540Gln
NM_001353197.1:c.1614C>G	NP_001340126.1:p.His538Gln
NM_001353198.1:c.1614C>G	NP_001340127.1:p.His538Gln
NM_001353199.1:c.1425C>G	NP_001340128.1:p.His475Gln
NM_001353200.1:c.1254C>G	NP_001340129.1:p.His418Gln
NR_148391.1:n.1760C>G
NR_148392.1:n.1978C>G
NR_148393.1:n.1899C>G
NR_148394.1:n.1653C>G
NR_148395.1:n.2051C>G
NR_148396.1:n.1685C>G
NR_148397.1:n.1810C>G
NR_148398.1:n.1765C>G
NR_148399.1:n.2291C>G
NR_148400.1:n.1890C>G
XM_005272162.3:c.579C>G	XP_005272219.1:p.His193Gln
XM_006716932.2:c.1425C>G	XP_006716995.1:p.His475Gln
XM_011518140.2:c.1629C>G	XP_011516442.1:p.His543Gln
XM_011518141.2:c.1563C>G	XP_011516443.1:p.His521Gln
XM_011518142.2:c.1467C>G	XP_011516444.1:p.His489Gln
XM_011518143.2:c.1461C>G	XP_011516445.1:p.His487Gln
XM_011518145.2:c.1320C>G	XP_011516447.1:p.His440Gln
XM_017014205.2:c.579C>G	XP_016869694.1:p.His193Gln
XM_024447380.1:c.579C>G	XP_024303148.1:p.His193Gln
XM_024447381.1:c.885C>G	XP_024303149.1:p.His295Gln
XM_024447382.1:c.579C>G	XP_024303150.1:p.His193Gln
XR_001746160.2:n.1880C>G
XR_001746162.2:n.2085C>G
XR_001746164.1:n.1802C>G
XR_001746166.2:n.2097C>G
NM_001077365.2:c.1710C>G MANE Select	NP_001070833.1:p.His570Gln
NM_001077366.2:c.1548C>G	NP_001070834.1:p.His516Gln
NM_001136113.2:c.1710C>G	NP_001129585.1:p.His570Gln
NM_001136114.2:c.1359C>G	NP_001129586.1:p.His453Gln
NM_001353193.2:c.1776C>G	NP_001340122.2:p.His592Gln
NM_001353194.2:c.1548C>G	NP_001340123.1:p.His516Gln
NM_001353195.2:c.1359C>G	NP_001340124.1:p.His453Gln
NM_001353196.2:c.1620C>G	NP_001340125.1:p.His540Gln
NM_001353197.2:c.1614C>G	NP_001340126.2:p.His538Gln
NM_001353198.2:c.1614C>G	NP_001340127.2:p.His538Gln
NM_001353199.2:c.1425C>G	NP_001340128.2:p.His475Gln
NM_001353200.2:c.1254C>G	NP_001340129.1:p.His418Gln
NM_001374689.1:c.1698C>G	NP_001361618.1:p.His566Gln
NM_001374690.1:c.1491C>G	NP_001361619.1:p.His497Gln
NM_001374691.1:c.1359C>G	NP_001361620.1:p.His453Gln
NM_001374692.1:c.1359C>G	NP_001361621.1:p.His453Gln
NM_001374693.1:c.1359C>G	NP_001361622.1:p.His453Gln
NM_001374695.1:c.1320C>G	NP_001361624.1:p.His440Gln
NM_007171.4:c.1776C>G	NP_009102.4:p.His592Gln
NR_148391.2:n.1744C>G
NR_148392.2:n.1962C>G
NR_148393.2:n.1883C>G
NR_148394.2:n.1637C>G
NR_148395.2:n.2035C>G
NR_148396.2:n.1669C>G
NR_148397.2:n.1794C>G
NR_148398.2:n.1749C>G
NR_148399.2:n.2275C>G
NR_148400.2:n.1874C>G