Canonical Allele Identifier: CA414126969

Gene: XIAP

Linked Data

• ClinVar Variation Id: 523420
• ClinVar RCV Id: RCV000626775 ; RCV000990940 ; RCV000788724
• dbSNP Id: rs1556408009
• COSMIC: COSM6330053
• MyVariant Identifiers: chrX:g.123034384C>T (hg19) ; chrX:g.123900534C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.123900534C>T , CM000685.2:g.123900534C>T	GRCh38
NC_000023.10:g.123034384C>T , CM000685.1:g.123034384C>T	GRCh37
NC_000023.9:g.122862065C>T	NCBI36
NG_007264.1:g.45337C>T , LRG_19:g.45337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422098.6:c.1141C>T	ENSP00000405529.2:p.Arg381Ter
ENST00000698505.1:n.586C>T
ENST00000371199.8:c.1141C>T MANE Select	ENSP00000360242.3:p.Arg381Ter
ENST00000355640.3:c.1141C>T	ENSP00000347858.3:p.Arg381Ter
ENST00000371199.7:c.1141C>T	ENSP00000360242.3:p.Arg381Ter
ENST00000434753.7:c.1141C>T	ENSP00000395230.3:p.Arg381Ter
ENST00000468691.5:n.341C>T
ENST00000481776.5:n.406C>T
ENST00000497640.1:n.363C>T
ENST00000497906.5:n.463C>T
NM_001167.3:c.1141C>T , LRG_19t1:c.1141C>T	NP_001158.2:p.Arg381Ter
NM_001204401.1:c.1141C>T	NP_001191330.1:p.Arg381Ter
NR_037916.1:n.391C>T
XM_006724754.2:c.1141C>T	XP_006724817.1:p.Arg381Ter
XM_011531329.1:c.1141C>T	XP_011529631.1:p.Arg381Ter
XM_011531329.2:c.1141C>T	XP_011529631.1:p.Arg381Ter
NM_001167.4:c.1141C>T MANE Select	NP_001158.2:p.Arg381Ter
NM_001204401.2:c.1141C>T	NP_001191330.1:p.Arg381Ter
NM_001378590.1:c.1141C>T	NP_001365519.1:p.Arg381Ter
NM_001378591.1:c.1141C>T	NP_001365520.1:p.Arg381Ter
NM_001378592.1:c.1141C>T	NP_001365521.1:p.Arg381Ter
NR_037916.2:n.505C>T
NR_165803.1:n.487C>T