Canonical Allele Identifier: CA1984131629

Gene: MYO7A

Linked Data

• dbSNP Id: rs1591516847

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214813T>C , CM000673.2:g.77214813T>C	GRCh38
NC_000011.9:g.76925858T>C , CM000673.1:g.76925858T>C	GRCh37
NC_000011.8:g.76603506T>C	NCBI36
NG_009086.1:g.91549T>C
NG_009086.2:g.91568T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.*117T>C MANE Select	ENSP00000386331.3:n.*117T>C
ENST00000670577.1:c.4566T>C
ENST00000409619.6:c.*117T>C	ENSP00000386635.2:n.*117T>C
ENST00000409709.7:c.*117T>C	ENSP00000386331.3:n.*117T>C
ENST00000458169.2:c.4191T>C	ENSP00000417017.2:n.4191T>C
ENST00000458637.6:c.*117T>C	ENSP00000392185.2:n.*117T>C
ENST00000481328.7:n.5315T>C
ENST00000605744.1:n.2279T>C
NM_000260.3:c.*117T>C	NP_000251.3:n.*117T>C
NM_001127180.1:c.*117T>C	NP_001120652.1:n.*117T>C
XM_005274012.2:c.*117T>C	XP_005274069.1:n.*117T>C
XM_006718561.2:c.*117T>C	XP_006718624.1:n.*117T>C
XR_949941.1:n.7059T>C
XM_017017780.1:c.*117T>C	XP_016873269.1:n.*117T>C
XM_017017784.1:c.*117T>C	XP_016873273.1:n.*117T>C
XM_017017788.1:c.*117T>C	XP_016873277.1:n.*117T>C
XR_001747885.1:n.6844T>C
XR_001747887.1:n.6830T>C
NM_000260.4:c.*117T>C MANE Select	NP_000251.3:n.*117T>C
NM_001127180.2:c.*117T>C	NP_001120652.1:n.*117T>C
NM_001369365.1:c.*117T>C	NP_001356294.1:n.*117T>C