Canonical Allele Identifier: CA381935855

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76922273G>T (hg19) ; chr11:g.77211228G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211228G>T , CM000673.2:g.77211228G>T	GRCh38
NC_000011.9:g.76922273G>T , CM000673.1:g.76922273G>T	GRCh37
NC_000011.8:g.76599921G>T	NCBI36
NG_009086.1:g.87964G>T
NG_009086.2:g.87983G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6128G>T MANE Select	ENSP00000386331.3:p.Arg2043Met
ENST00000670577.1:c.3929G>T
ENST00000409619.6:c.5981G>T	ENSP00000386635.2:p.Arg1994Met
ENST00000409709.7:c.6128G>T	ENSP00000386331.3:p.Arg2043Met
ENST00000458169.2:c.3554G>T	ENSP00000417017.2:p.Arg1185Met
ENST00000458637.6:c.6014G>T	ENSP00000392185.2:p.Arg2005Met
ENST00000481328.7:n.3664G>T
ENST00000526863.2:n.25+317G>T
ENST00000605744.1:n.1595G>T
NM_000260.3:c.6128G>T	NP_000251.3:p.Arg2043Met
NM_001127180.1:c.6014G>T	NP_001120652.1:p.Arg2005Met
XM_005274012.2:c.6011G>T	XP_005274069.1:p.Arg2004Met
XM_006718558.2:c.6119G>T	XP_006718621.1:p.Arg2040Met
XM_006718559.2:c.6014G>T	XP_006718622.1:p.Arg2005Met
XM_006718560.2:c.6011G>T	XP_006718623.1:p.Arg2004Met
XM_006718561.2:c.6014G>T	XP_006718624.1:p.Arg2005Met
XM_011545044.1:c.6128G>T	XP_011543346.1:p.Arg2043Met
XM_011545045.1:c.6122G>T	XP_011543347.1:p.Arg2041Met
XM_011545046.1:c.6095G>T	XP_011543348.1:p.Arg2032Met
XM_011545047.1:c.6032G>T	XP_011543349.1:p.Arg2011Met
XM_011545048.1:c.5903G>T	XP_011543350.1:p.Arg1968Met
XM_011545049.1:c.5891G>T	XP_011543351.1:p.Arg1964Met
XM_011545050.1:c.5864G>T	XP_011543352.1:p.Arg1955Met
XM_011545051.1:c.6128G>T	XP_011543353.1:p.Arg2043Met
XR_949938.1:n.6448G>T
XR_949941.1:n.6422G>T
XM_011545044.2:c.6128G>T	XP_011543346.1:p.Arg2043Met
XM_011545046.2:c.6218G>T	XP_011543348.2:p.Arg2073Met
XM_011545050.2:c.5864G>T	XP_011543352.1:p.Arg1955Met
XM_017017778.1:c.6212G>T	XP_016873267.1:p.Arg2071Met
XM_017017779.1:c.6209G>T	XP_016873268.1:p.Arg2070Met
XM_017017780.1:c.6218G>T	XP_016873269.1:p.Arg2073Met
XM_017017781.1:c.6122G>T	XP_016873270.1:p.Arg2041Met
XM_017017782.1:c.6104G>T	XP_016873271.1:p.Arg2035Met
XM_017017783.1:c.6101G>T	XP_016873272.1:p.Arg2034Met
XM_017017784.1:c.6101G>T	XP_016873273.1:p.Arg2034Met
XM_017017785.1:c.5981G>T	XP_016873274.1:p.Arg1994Met
XM_017017786.1:c.6218G>T	XP_016873275.1:p.Arg2073Met
XM_017017788.1:c.6104G>T	XP_016873277.1:p.Arg2035Met
XR_001747885.1:n.6207G>T
XR_001747886.1:n.6148G>T
XR_001747887.1:n.6193G>T
NM_000260.4:c.6128G>T MANE Select	NP_000251.3:p.Arg2043Met
NM_001127180.2:c.6014G>T	NP_001120652.1:p.Arg2005Met
NM_001369365.1:c.5981G>T	NP_001356294.1:p.Arg1994Met