Canonical Allele Identifier: CA381935800

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211218-C-A
• MyVariant Identifiers: chr11:g.76922263C>A (hg19) ; chr11:g.77211218C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211218C>A , CM000673.2:g.77211218C>A	GRCh38
NC_000011.9:g.76922263C>A , CM000673.1:g.76922263C>A	GRCh37
NC_000011.8:g.76599911C>A	NCBI36
NG_009086.1:g.87954C>A
NG_009086.2:g.87973C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6118C>A MANE Select	ENSP00000386331.3:p.Leu2040Met
ENST00000670577.1:c.3919C>A
ENST00000409619.6:c.5971C>A	ENSP00000386635.2:p.Leu1991Met
ENST00000409709.7:c.6118C>A	ENSP00000386331.3:p.Leu2040Met
ENST00000458169.2:c.3544C>A	ENSP00000417017.2:p.Leu1182Met
ENST00000458637.6:c.6004C>A	ENSP00000392185.2:p.Leu2002Met
ENST00000481328.7:n.3654C>A
ENST00000526863.2:n.25+307C>A
ENST00000605744.1:n.1585C>A
NM_000260.3:c.6118C>A	NP_000251.3:p.Leu2040Met
NM_001127180.1:c.6004C>A	NP_001120652.1:p.Leu2002Met
XM_005274012.2:c.6001C>A	XP_005274069.1:p.Leu2001Met
XM_006718558.2:c.6109C>A	XP_006718621.1:p.Leu2037Met
XM_006718559.2:c.6004C>A	XP_006718622.1:p.Leu2002Met
XM_006718560.2:c.6001C>A	XP_006718623.1:p.Leu2001Met
XM_006718561.2:c.6004C>A	XP_006718624.1:p.Leu2002Met
XM_011545044.1:c.6118C>A	XP_011543346.1:p.Leu2040Met
XM_011545045.1:c.6112C>A	XP_011543347.1:p.Leu2038Met
XM_011545046.1:c.6085C>A	XP_011543348.1:p.Leu2029Met
XM_011545047.1:c.6022C>A	XP_011543349.1:p.Leu2008Met
XM_011545048.1:c.5893C>A	XP_011543350.1:p.Leu1965Met
XM_011545049.1:c.5881C>A	XP_011543351.1:p.Leu1961Met
XM_011545050.1:c.5854C>A	XP_011543352.1:p.Leu1952Met
XM_011545051.1:c.6118C>A	XP_011543353.1:p.Leu2040Met
XR_949938.1:n.6438C>A
XR_949941.1:n.6412C>A
XM_011545044.2:c.6118C>A	XP_011543346.1:p.Leu2040Met
XM_011545046.2:c.6208C>A	XP_011543348.2:p.Leu2070Met
XM_011545050.2:c.5854C>A	XP_011543352.1:p.Leu1952Met
XM_017017778.1:c.6202C>A	XP_016873267.1:p.Leu2068Met
XM_017017779.1:c.6199C>A	XP_016873268.1:p.Leu2067Met
XM_017017780.1:c.6208C>A	XP_016873269.1:p.Leu2070Met
XM_017017781.1:c.6112C>A	XP_016873270.1:p.Leu2038Met
XM_017017782.1:c.6094C>A	XP_016873271.1:p.Leu2032Met
XM_017017783.1:c.6091C>A	XP_016873272.1:p.Leu2031Met
XM_017017784.1:c.6091C>A	XP_016873273.1:p.Leu2031Met
XM_017017785.1:c.5971C>A	XP_016873274.1:p.Leu1991Met
XM_017017786.1:c.6208C>A	XP_016873275.1:p.Leu2070Met
XM_017017788.1:c.6094C>A	XP_016873277.1:p.Leu2032Met
XR_001747885.1:n.6197C>A
XR_001747886.1:n.6138C>A
XR_001747887.1:n.6183C>A
NM_000260.4:c.6118C>A MANE Select	NP_000251.3:p.Leu2040Met
NM_001127180.2:c.6004C>A	NP_001120652.1:p.Leu2002Met
NM_001369365.1:c.5971C>A	NP_001356294.1:p.Leu1991Met