Canonical Allele Identifier: CA721564902

Gene: CAPN15

Linked Data

• dbSNP Id: rs2266928
• gnomAD v3: 16-530124-C-G
• gnomAD v4: 16-530124-C-G
• MyVariant Identifiers: chr16:g.580124C>G (hg19) ; chr16:g.530124C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.530124C>G , CM000678.2:g.530124C>G	GRCh38
NC_000016.9:g.580124C>G , CM000678.1:g.580124C>G	GRCh37
NC_000016.8:g.520125C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000219611.7:c.-190+2095C>G MANE Select	ENSP00000219611.2:n.-190+2095C>G
ENST00000219611.6:c.-190+2095C>G	ENSP00000219611.2:n.-190+2095C>G
ENST00000562370.5:c.-76+2095C>G	ENSP00000456017.1:n.-76+2095C>G
ENST00000567216.5:n.282+2095C>G
ENST00000568988.5:c.-368+2095C>G	ENSP00000457030.1:n.-368+2095C>G
NM_005632.2:c.-190+2095C>G	NP_005623.1:n.-190+2095C>G
XM_011522619.1:c.-3721+2095C>G	XP_011520921.1:n.-3721+2095C>G
XM_011522620.1:c.-3224+2095C>G	XP_011520922.1:n.-3224+2095C>G
XM_011522621.1:c.-3721+692C>G	XP_011520923.1:n.-3721+692C>G
XM_011522623.1:c.-927+2095C>G	XP_011520925.1:n.-927+2095C>G
XM_011522624.1:c.-265+2095C>G	XP_011520926.1:n.-265+2095C>G
XM_011522625.1:c.-151+2095C>G	XP_011520927.1:n.-151+2095C>G
XM_011522626.1:c.-3721+2095C>G	XP_011520928.1:n.-3721+2095C>G
XM_011522627.1:c.-3721+2095C>G	XP_011520929.1:n.-3721+2095C>G
XM_011522628.1:c.-989+2095C>G	XP_011520930.1:n.-989+2095C>G
XM_011522629.1:c.-852+2095C>G	XP_011520931.1:n.-852+2095C>G
XM_011522630.1:c.-190+2095C>G	XP_011520932.1:n.-190+2095C>G
XM_011522631.1:c.-76+2095C>G	XP_011520933.1:n.-76+2095C>G
XM_011522632.1:c.-76+692C>G	XP_011520934.1:n.-76+692C>G
XM_011522620.2:c.-3224+2095C>G	XP_011520922.1:n.-3224+2095C>G
XM_011522621.2:c.-3721+692C>G	XP_011520923.1:n.-3721+692C>G
XM_011522623.2:c.-927+2095C>G	XP_011520925.1:n.-927+2095C>G
XM_011522624.2:c.-265+2095C>G	XP_011520926.1:n.-265+2095C>G
XM_011522625.2:c.-151+2095C>G	XP_011520927.1:n.-151+2095C>G
XM_011522626.3:c.-3721+2095C>G	XP_011520928.1:n.-3721+2095C>G
XM_011522627.2:c.-3721+2095C>G	XP_011520929.1:n.-3721+2095C>G
XM_011522628.3:c.-989+2095C>G	XP_011520930.1:n.-989+2095C>G
XM_011522629.3:c.-852+2095C>G	XP_011520931.1:n.-852+2095C>G
XM_011522630.2:c.-190+2095C>G	XP_011520932.1:n.-190+2095C>G
XM_011522631.2:c.-76+2095C>G	XP_011520933.1:n.-76+2095C>G
XM_011522632.2:c.-76+692C>G	XP_011520934.1:n.-76+692C>G
XM_017023596.1:c.-1064+2095C>G	XP_016879085.1:n.-1064+2095C>G
NM_005632.3:c.-190+2095C>G MANE Select	NP_005623.1:n.-190+2095C>G