Canonical Allele Identifier: CA401214613

Gene: BIRC5

Linked Data

• dbSNP Id: rs2076528437
• MyVariant Identifiers: chr17:g.76219576T>C (hg19) ; chr17:g.78223495T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223495T>C , CM000679.2:g.78223495T>C	GRCh38
NC_000017.10:g.76219576T>C , CM000679.1:g.76219576T>C	GRCh37
NC_000017.9:g.73731171T>C	NCBI36
NG_029069.1:g.14300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.370T>C MANE Select	ENSP00000324180.4:p.Phe124Leu
ENST00000301633.8:c.439T>C	ENSP00000301633.3:p.Phe147Leu
ENST00000350051.7:c.370T>C	ENSP00000324180.4:p.Phe124Leu
ENST00000374948.6:c.252T>C	ENSP00000364086.1:p.Asn84=
ENST00000589892.1:n.386T>C
ENST00000590925.6:c.*172T>C	ENSP00000467336.1:n.*172T>C
NM_001012270.1:c.252T>C	NP_001012270.1:p.Asn84=
NM_001012271.1:c.439T>C	NP_001012271.1:p.Phe147Leu
NM_001168.2:c.370T>C	NP_001159.2:p.Phe124Leu
XR_243654.3:n.572T>C
XR_934452.1:n.641T>C
XR_243654.5:n.572T>C
XR_934452.3:n.641T>C
NM_001168.3:c.370T>C MANE Select	NP_001159.2:p.Phe124Leu
NM_001012270.2:c.252T>C	NP_001012270.1:p.Asn84=
NM_001012271.2:c.439T>C	NP_001012271.1:p.Phe147Leu