Canonical Allele Identifier: CA381935692

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76922244G>C (hg19) ; chr11:g.77211199G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211199G>C , CM000673.2:g.77211199G>C	GRCh38
NC_000011.9:g.76922244G>C , CM000673.1:g.76922244G>C	GRCh37
NC_000011.8:g.76599892G>C	NCBI36
NG_009086.1:g.87935G>C
NG_009086.2:g.87954G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6099G>C MANE Select	ENSP00000386331.3:p.Glu2033Asp
ENST00000670577.1:c.3900G>C
ENST00000409619.6:c.5952G>C	ENSP00000386635.2:p.Glu1984Asp
ENST00000409709.7:c.6099G>C	ENSP00000386331.3:p.Glu2033Asp
ENST00000458169.2:c.3525G>C	ENSP00000417017.2:p.Glu1175Asp
ENST00000458637.6:c.5985G>C	ENSP00000392185.2:p.Glu1995Asp
ENST00000481328.7:n.3635G>C
ENST00000526863.2:n.25+288G>C
ENST00000605744.1:n.1566G>C
NM_000260.3:c.6099G>C	NP_000251.3:p.Glu2033Asp
NM_001127180.1:c.5985G>C	NP_001120652.1:p.Glu1995Asp
XM_005274012.2:c.5982G>C	XP_005274069.1:p.Glu1994Asp
XM_006718558.2:c.6090G>C	XP_006718621.1:p.Glu2030Asp
XM_006718559.2:c.5985G>C	XP_006718622.1:p.Glu1995Asp
XM_006718560.2:c.5982G>C	XP_006718623.1:p.Glu1994Asp
XM_006718561.2:c.5985G>C	XP_006718624.1:p.Glu1995Asp
XM_011545044.1:c.6099G>C	XP_011543346.1:p.Glu2033Asp
XM_011545045.1:c.6093G>C	XP_011543347.1:p.Glu2031Asp
XM_011545046.1:c.6066G>C	XP_011543348.1:p.Glu2022Asp
XM_011545047.1:c.6003G>C	XP_011543349.1:p.Glu2001Asp
XM_011545048.1:c.5874G>C	XP_011543350.1:p.Glu1958Asp
XM_011545049.1:c.5862G>C	XP_011543351.1:p.Glu1954Asp
XM_011545050.1:c.5835G>C	XP_011543352.1:p.Glu1945Asp
XM_011545051.1:c.6099G>C	XP_011543353.1:p.Glu2033Asp
XR_949938.1:n.6419G>C
XR_949941.1:n.6393G>C
XM_011545044.2:c.6099G>C	XP_011543346.1:p.Glu2033Asp
XM_011545046.2:c.6189G>C	XP_011543348.2:p.Glu2063Asp
XM_011545050.2:c.5835G>C	XP_011543352.1:p.Glu1945Asp
XM_017017778.1:c.6183G>C	XP_016873267.1:p.Glu2061Asp
XM_017017779.1:c.6180G>C	XP_016873268.1:p.Glu2060Asp
XM_017017780.1:c.6189G>C	XP_016873269.1:p.Glu2063Asp
XM_017017781.1:c.6093G>C	XP_016873270.1:p.Glu2031Asp
XM_017017782.1:c.6075G>C	XP_016873271.1:p.Glu2025Asp
XM_017017783.1:c.6072G>C	XP_016873272.1:p.Glu2024Asp
XM_017017784.1:c.6072G>C	XP_016873273.1:p.Glu2024Asp
XM_017017785.1:c.5952G>C	XP_016873274.1:p.Glu1984Asp
XM_017017786.1:c.6189G>C	XP_016873275.1:p.Glu2063Asp
XM_017017788.1:c.6075G>C	XP_016873277.1:p.Glu2025Asp
XR_001747885.1:n.6178G>C
XR_001747886.1:n.6119G>C
XR_001747887.1:n.6164G>C
NM_000260.4:c.6099G>C MANE Select	NP_000251.3:p.Glu2033Asp
NM_001127180.2:c.5985G>C	NP_001120652.1:p.Glu1995Asp
NM_001369365.1:c.5952G>C	NP_001356294.1:p.Glu1984Asp