Canonical Allele Identifier: CA10603137

Gene: CAPN5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77115560C>T , CM000673.2:g.77115560C>T	GRCh38
NC_000011.9:g.76826606C>T , CM000673.1:g.76826606C>T	GRCh37
NC_000011.8:g.76504254C>T	NCBI36
NG_033002.1:g.53615C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531028.2:c.865C>T	ENSP00000467244.2:p.Arg289Trp
ENST00000648180.1:c.865C>T MANE Select	ENSP00000498132.1:p.Arg289Trp
ENST00000648752.1:c.559C>T	ENSP00000496931.1:p.Arg187Trp
ENST00000278559.7:c.865C>T	ENSP00000278559.3:p.Arg289Trp
ENST00000456580.6:c.985C>T	ENSP00000409996.2:p.Arg329Trp
ENST00000529629.5:c.865C>T	ENSP00000432332.1:p.Arg289Trp
ENST00000531028.1:c.150-8170C>T	ENSP00000467244.1:n.150-8170C>T
ENST00000615896.1:c.862C>T	ENSP00000483282.1:p.Arg288Trp
NM_004055.4:c.865C>T	NP_004046.2:p.Arg289Trp
XM_011545225.1:c.985C>T	XP_011543527.1:p.Arg329Trp
XM_017018223.2:c.865C>T	XP_016873712.2:p.Arg289Trp
NM_004055.5:c.865C>T MANE Select	NP_004046.2:p.Arg289Trp