Canonical Allele Identifier: CA381936373

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76922379G>C (hg19) ; chr11:g.77211334G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211334G>C , CM000673.2:g.77211334G>C	GRCh38
NC_000011.9:g.76922379G>C , CM000673.1:g.76922379G>C	GRCh37
NC_000011.8:g.76600027G>C	NCBI36
NG_009086.1:g.88070G>C
NG_009086.2:g.88089G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6234G>C MANE Select	ENSP00000386331.3:p.Lys2078Asn
ENST00000670577.1:c.4035G>C
ENST00000409619.6:c.6087G>C	ENSP00000386635.2:p.Lys2029Asn
ENST00000409709.7:c.6234G>C	ENSP00000386331.3:p.Lys2078Asn
ENST00000458169.2:c.3660G>C	ENSP00000417017.2:p.Lys1220Asn
ENST00000458637.6:c.6120G>C	ENSP00000392185.2:p.Lys2040Asn
ENST00000481328.7:n.3770G>C
ENST00000526863.2:n.25+423G>C
ENST00000605744.1:n.1701G>C
NM_000260.3:c.6234G>C	NP_000251.3:p.Lys2078Asn
NM_001127180.1:c.6120G>C	NP_001120652.1:p.Lys2040Asn
XM_005274012.2:c.6117G>C	XP_005274069.1:p.Lys2039Asn
XM_006718558.2:c.6225G>C	XP_006718621.1:p.Lys2075Asn
XM_006718559.2:c.6120G>C	XP_006718622.1:p.Lys2040Asn
XM_006718560.2:c.6117G>C	XP_006718623.1:p.Lys2039Asn
XM_006718561.2:c.6120G>C	XP_006718624.1:p.Lys2040Asn
XM_011545044.1:c.6234G>C	XP_011543346.1:p.Lys2078Asn
XM_011545045.1:c.6228G>C	XP_011543347.1:p.Lys2076Asn
XM_011545046.1:c.6201G>C	XP_011543348.1:p.Lys2067Asn
XM_011545047.1:c.6138G>C	XP_011543349.1:p.Lys2046Asn
XM_011545048.1:c.6009G>C	XP_011543350.1:p.Lys2003Asn
XM_011545049.1:c.5997G>C	XP_011543351.1:p.Lys1999Asn
XM_011545050.1:c.5970G>C	XP_011543352.1:p.Lys1990Asn
XM_011545051.1:c.6234G>C	XP_011543353.1:p.Lys2078Asn
XR_949938.1:n.6554G>C
XR_949941.1:n.6528G>C
XM_011545044.2:c.6234G>C	XP_011543346.1:p.Lys2078Asn
XM_011545046.2:c.6324G>C	XP_011543348.2:p.Lys2108Asn
XM_011545050.2:c.5970G>C	XP_011543352.1:p.Lys1990Asn
XM_017017778.1:c.6318G>C	XP_016873267.1:p.Lys2106Asn
XM_017017779.1:c.6315G>C	XP_016873268.1:p.Lys2105Asn
XM_017017780.1:c.6324G>C	XP_016873269.1:p.Lys2108Asn
XM_017017781.1:c.6228G>C	XP_016873270.1:p.Lys2076Asn
XM_017017782.1:c.6210G>C	XP_016873271.1:p.Lys2070Asn
XM_017017783.1:c.6207G>C	XP_016873272.1:p.Lys2069Asn
XM_017017784.1:c.6207G>C	XP_016873273.1:p.Lys2069Asn
XM_017017785.1:c.6087G>C	XP_016873274.1:p.Lys2029Asn
XM_017017786.1:c.6324G>C	XP_016873275.1:p.Lys2108Asn
XM_017017788.1:c.6210G>C	XP_016873277.1:p.Lys2070Asn
XR_001747885.1:n.6313G>C
XR_001747887.1:n.6299G>C
NM_000260.4:c.6234G>C MANE Select	NP_000251.3:p.Lys2078Asn
NM_001127180.2:c.6120G>C	NP_001120652.1:p.Lys2040Asn
NM_001369365.1:c.6087G>C	NP_001356294.1:p.Lys2029Asn