Canonical Allele Identifier: CA2053276
Community Standard Title: NM_032977.4(CASP10):c.1453G>A (p.Asp485Asn)
Gene: CASP10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201217625G>A , CM000664.2:g.201217625G>A GRCh38
NC_000002.11:g.202082348G>A , CM000664.1:g.202082348G>A GRCh37
NC_000002.10:g.201790593G>A NCBI36
NG_007265.1:g.39494G>A , LRG_33:g.39494G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032977.4:c.1453G>A MANE Select NP_116759.2:p.Asp485Asn
ENST00000286186.11:c.1453G>A MANE Select ENSP00000286186.6:p.Asp485Asn
NM_001206524.1:c.1252G>A NP_001193453.1:p.Asp418Asn
NM_001206524.2:c.1252G>A NP_001193453.1:p.Asp418Asn
NM_001206542.1:c.1286+8063G>A NP_001193471.1:n.1286+8063G>A
NM_001206542.2:c.1286+8063G>A NP_001193471.1:n.1286+8063G>A
NM_001230.4:c.1324G>A NP_001221.2:p.Asp442Asn
NM_001230.5:c.1324G>A NP_001221.2:p.Asp442Asn
NM_032974.4:c.1415+8063G>A NP_116756.2:n.1415+8063G>A
NM_032974.5:c.1415+8063G>A NP_116756.2:n.1415+8063G>A
NM_032976.3:c.*539G>A NP_116758.1:n.*539G>A
NM_032976.4:c.*539G>A NP_116758.1:n.*539G>A
NM_032977.3:c.1453G>A , LRG_33t1:c.1453G>A NP_116759.2:p.Asp485Asn
ENST00000272879.9:c.1415+8063G>A ENSP00000272879.5:n.1415+8063G>A
ENST00000286186.10:c.1453G>A ENSP00000286186.6:p.Asp485Asn
ENST00000313728.11:c.1252G>A ENSP00000314599.7:p.Asp418Asn
ENST00000313728.12:c.1252G>A ENSP00000314599.7:p.Asp418Asn
ENST00000346817.10:c.1324G>A ENSP00000237865.7:p.Asp442Asn
ENST00000346817.9:c.1324G>A ENSP00000237865.7:p.Asp442Asn
ENST00000360132.7:c.*539G>A ENSP00000353250.3:n.*539G>A
ENST00000448480.1:c.1286+8063G>A ENSP00000396835.1:n.1286+8063G>A
ENST00000492363.5:n.1361G>A
ENST00000492363.6:c.*539G>A ENSP00000512459.1:n.*539G>A
ENST00000696199.1:c.722-11305G>A ENSP00000512481.1:n.722-11305G>A
XM_005246907.2:c.1450G>A XP_005246964.1:p.Asp484Asn
XM_006712796.2:c.703G>A XP_006712859.1:p.Asp235Asn
XM_006712796.3:c.703G>A XP_006712859.1:p.Asp235Asn