Canonical Allele Identifier: CA6196096

Gene: CAPN5

Linked Data

• ClinVar Variation Id: 501412
• ClinVar RCV Id: RCV000595905
• dbSNP Id: rs202150535
• ExAC: 11:76796014 G / A
• gnomAD v2: 11-76796014-G-A
• gnomAD v3: 11-77084968-G-A
• gnomAD v4: 11-77084968-G-A
• MyVariant Identifiers: chr11:g.76796014G>A (hg19) ; chr11:g.77084968G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77084968G>A , CM000673.2:g.77084968G>A	GRCh38
NC_000011.9:g.76796014G>A , CM000673.1:g.76796014G>A	GRCh37
NC_000011.8:g.76473662G>A	NCBI36
NG_033002.1:g.23023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531028.2:c.82G>A	ENSP00000467244.2:p.Glu28Lys
ENST00000648180.1:c.82G>A MANE Select	ENSP00000498132.1:p.Glu28Lys
ENST00000278559.7:c.82G>A	ENSP00000278559.3:p.Glu28Lys
ENST00000456580.6:c.82G>A	ENSP00000409996.2:p.Glu28Lys
ENST00000527066.5:c.82G>A	ENSP00000435894.1:p.Glu28Lys
ENST00000529629.5:c.82G>A	ENSP00000432332.1:p.Glu28Lys
ENST00000531028.1:c.82G>A	ENSP00000467244.1:p.Glu28Lys
ENST00000533889.1:n.4G>A
ENST00000615896.1:c.82G>A	ENSP00000483282.1:p.Glu28Lys
NM_004055.4:c.82G>A	NP_004046.2:p.Glu28Lys
XM_011545225.1:c.202G>A	XP_011543527.1:p.Glu68Lys
XM_017018223.2:c.82G>A	XP_016873712.2:p.Glu28Lys
NM_004055.5:c.82G>A MANE Select	NP_004046.2:p.Glu28Lys