Canonical Allele Identifier: CA381939427

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76925712A>C (hg19) ; chr11:g.77214667A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214667A>C , CM000673.2:g.77214667A>C	GRCh38
NC_000011.9:g.76925712A>C , CM000673.1:g.76925712A>C	GRCh37
NC_000011.8:g.76603360A>C	NCBI36
NG_009086.1:g.91403A>C
NG_009086.2:g.91422A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6619A>C MANE Select	ENSP00000386331.3:p.Lys2207Gln
ENST00000670577.1:c.4420A>C
ENST00000409619.6:c.6472A>C	ENSP00000386635.2:p.Lys2158Gln
ENST00000409709.7:c.6619A>C	ENSP00000386331.3:p.Lys2207Gln
ENST00000458169.2:c.4045A>C	ENSP00000417017.2:p.Lys1349Gln
ENST00000458637.6:c.6499A>C	ENSP00000392185.2:p.Lys2167Gln
ENST00000481328.7:n.5169A>C
ENST00000605744.1:n.2133A>C
NM_000260.3:c.6619A>C	NP_000251.3:p.Lys2207Gln
NM_001127180.1:c.6499A>C	NP_001120652.1:p.Lys2167Gln
XM_005274012.2:c.6502A>C	XP_005274069.1:p.Lys2168Gln
XM_006718561.2:c.6505A>C	XP_006718624.1:p.Lys2169Gln
XR_949941.1:n.6913A>C
XM_017017780.1:c.6709A>C	XP_016873269.1:p.Lys2237Gln
XM_017017784.1:c.6592A>C	XP_016873273.1:p.Lys2198Gln
XM_017017788.1:c.6595A>C	XP_016873277.1:p.Lys2199Gln
XR_001747885.1:n.6698A>C
XR_001747887.1:n.6684A>C
NM_000260.4:c.6619A>C MANE Select	NP_000251.3:p.Lys2207Gln
NM_001127180.2:c.6499A>C	NP_001120652.1:p.Lys2167Gln
NM_001369365.1:c.6472A>C	NP_001356294.1:p.Lys2158Gln