Canonical Allele Identifier: CA391995105

Gene: CAPN3

Linked Data

• gnomAD v4: 15-42360065-T-C
• MyVariant Identifiers: chr15:g.42652263T>C (hg19) ; chr15:g.42360065T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42360065T>C , CM000677.2:g.42360065T>C	GRCh38
NC_000015.9:g.42652263T>C , CM000677.1:g.42652263T>C	GRCh37
NC_000015.8:g.40439555T>C	NCBI36
NG_008660.1:g.16963T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.260T>C	ENSP00000183936.4:p.Leu87Pro
ENST00000357568.8:c.260T>C	ENSP00000350181.3:p.Leu87Pro
ENST00000397163.8:c.260T>C MANE Select	ENSP00000380349.3:p.Leu87Pro
ENST00000466369.5:n.540+5612T>C
ENST00000483208.5:n.540+5612T>C
ENST00000495723.1:n.540+5612T>C
ENST00000549793.5:n.540+5612T>C
ENST00000318023.11:c.260T>C	ENSP00000326281.8:p.Leu87Pro
ENST00000349748.7:c.260T>C	ENSP00000183936.4:p.Leu87Pro
ENST00000357568.7:c.260T>C	ENSP00000350181.3:p.Leu87Pro
ENST00000397163.7:c.260T>C	ENSP00000380349.3:p.Leu87Pro
NM_000070.2:c.260T>C	NP_000061.1:p.Leu87Pro
NM_024344.1:c.260T>C	NP_077320.1:p.Leu87Pro
NM_173087.1:c.260T>C	NP_775110.1:p.Leu87Pro
NM_000070.3:c.260T>C MANE Select	NP_000061.1:p.Leu87Pro
NM_024344.2:c.260T>C	NP_077320.1:p.Leu87Pro
NM_173087.2:c.260T>C	NP_775110.1:p.Leu87Pro