Canonical Allele Identifier: CA391993753

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359807T>C , CM000677.2:g.42359807T>C	GRCh38
NC_000015.9:g.42652005T>C , CM000677.1:g.42652005T>C	GRCh37
NC_000015.8:g.40439297T>C	NCBI36
NG_008660.1:g.16705T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000070.3:c.2T>C MANE Select	NP_000061.1:p.Met1Thr
ENST00000397163.8:c.2T>C MANE Select	ENSP00000380349.3:p.Met1Thr
NM_000070.2:c.2T>C	NP_000061.1:p.Met1Thr
NM_024344.1:c.2T>C	NP_077320.1:p.Met1Thr
NM_024344.2:c.2T>C	NP_077320.1:p.Met1Thr
NM_173087.1:c.2T>C	NP_775110.1:p.Met1Thr
NM_173087.2:c.2T>C	NP_775110.1:p.Met1Thr
ENST00000318023.11:c.2T>C	ENSP00000326281.8:p.Met1Thr
ENST00000349748.7:c.2T>C	ENSP00000183936.4:p.Met1Thr
ENST00000349748.8:c.2T>C	ENSP00000183936.4:p.Met1Thr
ENST00000357568.7:c.2T>C	ENSP00000350181.3:p.Met1Thr
ENST00000357568.8:c.2T>C	ENSP00000350181.3:p.Met1Thr
ENST00000397163.7:c.2T>C	ENSP00000380349.3:p.Met1Thr
ENST00000466369.5:n.540+5354T>C
ENST00000483208.5:n.540+5354T>C
ENST00000495723.1:n.540+5354T>C
ENST00000549793.5:n.540+5354T>C