Canonical Allele Identifier: CA381940138

Gene: CAPN5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77118185T>C , CM000673.2:g.77118185T>C	GRCh38
NC_000011.9:g.76829231T>C , CM000673.1:g.76829231T>C	GRCh37
NC_000011.8:g.76506879T>C	NCBI36
NG_033002.1:g.56240T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531028.2:c.1000T>C	ENSP00000467244.2:p.Phe334Leu
ENST00000648180.1:c.1000T>C MANE Select	ENSP00000498132.1:p.Phe334Leu
ENST00000648752.1:c.616T>C	ENSP00000496931.1:p.Phe206Leu
ENST00000278559.7:c.1000T>C	ENSP00000278559.3:p.Phe334Leu
ENST00000456580.6:c.1120T>C	ENSP00000409996.2:p.Phe374Leu
ENST00000529629.5:c.1000T>C	ENSP00000432332.1:p.Phe334Leu
ENST00000531028.1:c.150-5545T>C	ENSP00000467244.1:n.150-5545T>C
ENST00000615896.1:c.997T>C	ENSP00000483282.1:p.Phe333Leu
NM_004055.4:c.1000T>C	NP_004046.2:p.Phe334Leu
XM_011545225.1:c.1120T>C	XP_011543527.1:p.Phe374Leu
XM_017018223.2:c.1000T>C	XP_016873712.2:p.Phe334Leu
NM_004055.5:c.1000T>C MANE Select	NP_004046.2:p.Phe334Leu