Canonical Allele Identifier: CA350293068

Gene: CASP10

Linked Data

• gnomAD v4: 2-201209496-G-T
• MyVariant Identifiers: chr2:g.202074219G>T (hg19) ; chr2:g.201209496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209496G>T , CM000664.2:g.201209496G>T	GRCh38
NC_000002.11:g.202074219G>T , CM000664.1:g.202074219G>T	GRCh37
NC_000002.10:g.201782464G>T	NCBI36
NG_007265.1:g.31365G>T , LRG_33:g.31365G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.1148G>T	ENSP00000314599.7:p.Arg383Leu
ENST00000346817.10:c.1220G>T	ENSP00000237865.7:p.Arg407Leu
ENST00000438843.6:c.*806G>T	ENSP00000401914.1:n.*806G>T
ENST00000492363.6:c.*435G>T	ENSP00000512459.1:n.*435G>T
ENST00000696199.1:c.721+5730G>T	ENSP00000512481.1:n.721+5730G>T
ENST00000286186.11:c.1349G>T MANE Select	ENSP00000286186.6:p.Arg450Leu
ENST00000272879.9:c.1349G>T	ENSP00000272879.5:p.Arg450Leu
ENST00000286186.10:c.1349G>T	ENSP00000286186.6:p.Arg450Leu
ENST00000313728.11:c.1148G>T	ENSP00000314599.7:p.Arg383Leu
ENST00000346817.9:c.1220G>T	ENSP00000237865.7:p.Arg407Leu
ENST00000360132.7:c.*435G>T	ENSP00000353250.3:n.*435G>T
ENST00000448480.1:c.1220G>T	ENSP00000396835.1:p.Arg407Leu
ENST00000492363.5:n.1257G>T
NM_001206524.1:c.1148G>T	NP_001193453.1:p.Arg383Leu
NM_001206542.1:c.1220G>T	NP_001193471.1:p.Arg407Leu
NM_001230.4:c.1220G>T	NP_001221.2:p.Arg407Leu
NM_032974.4:c.1349G>T	NP_116756.2:p.Arg450Leu
NM_032976.3:c.*435G>T	NP_116758.1:n.*435G>T
NM_032977.3:c.1349G>T , LRG_33t1:c.1349G>T	NP_116759.2:p.Arg450Leu
XM_005246907.2:c.1346G>T	XP_005246964.1:p.Arg449Leu
XM_006712796.2:c.599G>T	XP_006712859.1:p.Arg200Leu
XM_006712796.3:c.599G>T	XP_006712859.1:p.Arg200Leu
NM_001206524.2:c.1148G>T	NP_001193453.1:p.Arg383Leu
NM_001206542.2:c.1220G>T	NP_001193471.1:p.Arg407Leu
NM_001230.5:c.1220G>T	NP_001221.2:p.Arg407Leu
NM_032974.5:c.1349G>T	NP_116756.2:p.Arg450Leu
NM_032977.4:c.1349G>T MANE Select	NP_116759.2:p.Arg450Leu
NM_032976.4:c.*435G>T	NP_116758.1:n.*435G>T