Canonical Allele Identifier: CA294306879

Gene: BIRC5

Linked Data

• dbSNP Id: rs565973721
• gnomAD v4: 17-78223397-C-T
• MyVariant Identifiers: chr17:g.76219478C>T (hg19) ; chr17:g.78223397C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223397C>T , CM000679.2:g.78223397C>T	GRCh38
NC_000017.10:g.76219478C>T , CM000679.1:g.76219478C>T	GRCh37
NC_000017.9:g.73731073C>T	NCBI36
NG_029069.1:g.14202C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.340-68C>T MANE Select	ENSP00000324180.4:n.340-68C>T
ENST00000301633.8:c.409-68C>T	ENSP00000301633.3:n.409-68C>T
ENST00000350051.7:c.340-68C>T	ENSP00000324180.4:n.340-68C>T
ENST00000374948.6:c.222-68C>T	ENSP00000364086.1:n.222-68C>T
ENST00000589892.1:n.356-68C>T
ENST00000590925.6:c.*142-68C>T	ENSP00000467336.1:n.*142-68C>T
NM_001012270.1:c.222-68C>T	NP_001012270.1:n.222-68C>T
NM_001012271.1:c.409-68C>T	NP_001012271.1:n.409-68C>T
NM_001168.2:c.340-68C>T	NP_001159.2:n.340-68C>T
XR_243654.3:n.542-68C>T
XR_934452.1:n.611-68C>T
XR_243654.5:n.542-68C>T
XR_934452.3:n.611-68C>T
NM_001168.3:c.340-68C>T MANE Select	NP_001159.2:n.340-68C>T
NM_001012270.2:c.222-68C>T	NP_001012270.1:n.222-68C>T
NM_001012271.2:c.409-68C>T	NP_001012271.1:n.409-68C>T