Canonical Allele Identifier: CA394041627

Gene: CAPN15

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.551394C>T , CM000678.2:g.551394C>T	GRCh38
NC_000016.9:g.601394C>T , CM000678.1:g.601394C>T	GRCh37
NC_000016.8:g.541395C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219611.7:c.2159C>T MANE Select	ENSP00000219611.2:p.Ser720Phe
ENST00000219611.6:c.2159C>T	ENSP00000219611.2:p.Ser720Phe
NM_005632.2:c.2159C>T	NP_005623.1:p.Ser720Phe
XM_011522619.1:c.2363C>T	XP_011520921.1:p.Ser788Phe
XM_011522620.1:c.2363C>T	XP_011520922.1:p.Ser788Phe
XM_011522621.1:c.2363C>T	XP_011520923.1:p.Ser788Phe
XM_011522622.1:c.2363C>T	XP_011520924.1:p.Ser788Phe
XM_011522623.1:c.2363C>T	XP_011520925.1:p.Ser788Phe
XM_011522624.1:c.2363C>T	XP_011520926.1:p.Ser788Phe
XM_011522625.1:c.2363C>T	XP_011520927.1:p.Ser788Phe
XM_011522626.1:c.2363C>T	XP_011520928.1:p.Ser788Phe
XM_011522627.1:c.2363C>T	XP_011520929.1:p.Ser788Phe
XM_011522628.1:c.2159C>T	XP_011520930.1:p.Ser720Phe
XM_011522629.1:c.2159C>T	XP_011520931.1:p.Ser720Phe
XM_011522630.1:c.2159C>T	XP_011520932.1:p.Ser720Phe
XM_011522631.1:c.2159C>T	XP_011520933.1:p.Ser720Phe
XM_011522632.1:c.2159C>T	XP_011520934.1:p.Ser720Phe
XM_011522620.2:c.2363C>T	XP_011520922.1:p.Ser788Phe
XM_011522621.2:c.2363C>T	XP_011520923.1:p.Ser788Phe
XM_011522623.2:c.2363C>T	XP_011520925.1:p.Ser788Phe
XM_011522624.2:c.2363C>T	XP_011520926.1:p.Ser788Phe
XM_011522625.2:c.2363C>T	XP_011520927.1:p.Ser788Phe
XM_011522626.3:c.2363C>T	XP_011520928.1:p.Ser788Phe
XM_011522627.2:c.2363C>T	XP_011520929.1:p.Ser788Phe
XM_011522628.3:c.2159C>T	XP_011520930.1:p.Ser720Phe
XM_011522629.3:c.2159C>T	XP_011520931.1:p.Ser720Phe
XM_011522630.2:c.2159C>T	XP_011520932.1:p.Ser720Phe
XM_011522631.2:c.2159C>T	XP_011520933.1:p.Ser720Phe
XM_011522632.2:c.2159C>T	XP_011520934.1:p.Ser720Phe
XM_017023596.1:c.2363C>T	XP_016879085.1:p.Ser788Phe
NM_005632.3:c.2159C>T MANE Select	NP_005623.1:p.Ser720Phe