Canonical Allele Identifier: CA1597511

Gene: CAPN14

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31191964G>A , CM000664.2:g.31191964G>A	GRCh38
NC_000002.11:g.31414830G>A , CM000664.1:g.31414830G>A	GRCh37
NC_000002.10:g.31268334G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001145122.2:c.1249C>T MANE Select	NP_001138594.1:p.Leu417Phe
ENST00000403897.4:c.1249C>T MANE Select	ENSP00000385247.3:p.Leu417Phe
NM_001145122.1:c.1249C>T	NP_001138594.1:p.Leu417Phe
NM_001321270.1:c.721C>T	NP_001308199.1:p.Leu241Phe
NM_001321270.2:c.721C>T	NP_001308199.1:p.Leu241Phe
ENST00000398824.6:c.*680C>T	ENSP00000381805.2:n.*680C>T
ENST00000403897.3:c.1249C>T	ENSP00000385247.3:p.Leu417Phe
XM_006712022.2:c.721C>T	XP_006712085.1:p.Leu241Phe
XM_011532863.1:c.1249C>T	XP_011531165.1:p.Leu417Phe
XM_011532863.2:c.1249C>T	XP_011531165.1:p.Leu417Phe
XM_011532864.1:c.1249C>T	XP_011531166.1:p.Leu417Phe
XM_011532864.3:c.1249C>T	XP_011531166.1:p.Leu417Phe
XM_011532865.1:c.1249C>T	XP_011531167.1:p.Leu417Phe
XM_011532866.1:c.721C>T	XP_011531168.1:p.Leu241Phe
XM_011532866.2:c.721C>T	XP_011531168.1:p.Leu241Phe
XR_939683.1:n.1391C>T
XR_939683.2:n.1397C>T
XR_939684.1:n.1391C>T
XR_939684.2:n.1397C>T