Canonical Allele Identifier: CA6196426

Gene: CAPN5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77112686T>C , CM000673.2:g.77112686T>C	GRCh38
NC_000011.9:g.76823732T>C , CM000673.1:g.76823732T>C	GRCh37
NC_000011.8:g.76501380T>C	NCBI36
NG_033002.1:g.50741T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531028.2:c.395T>C	ENSP00000467244.2:p.Val132Ala
ENST00000648180.1:c.395T>C MANE Select	ENSP00000498132.1:p.Val132Ala
ENST00000648752.1:c.89T>C	ENSP00000496931.1:p.Val30Ala
ENST00000278559.7:c.395T>C	ENSP00000278559.3:p.Val132Ala
ENST00000456580.6:c.515T>C	ENSP00000409996.2:p.Val172Ala
ENST00000529629.5:c.395T>C	ENSP00000432332.1:p.Val132Ala
ENST00000531028.1:c.150-11044T>C	ENSP00000467244.1:n.150-11044T>C
ENST00000533889.1:n.317T>C
ENST00000615896.1:c.392T>C	ENSP00000483282.1:p.Val131Ala
NM_004055.4:c.395T>C	NP_004046.2:p.Val132Ala
XM_011545225.1:c.515T>C	XP_011543527.1:p.Val172Ala
XM_017018223.2:c.395T>C	XP_016873712.2:p.Val132Ala
NM_004055.5:c.395T>C MANE Select	NP_004046.2:p.Val132Ala