Canonical Allele Identifier: CA401214971

Gene: BIRC5

Linked Data

• dbSNP Id: rs17880183
• gnomAD v2: 17-76219611-C-G
• gnomAD v4: 17-78223530-C-G
• MyVariant Identifiers: chr17:g.76219611C>G (hg19) ; chr17:g.78223530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223530C>G , CM000679.2:g.78223530C>G	GRCh38
NC_000017.10:g.76219611C>G , CM000679.1:g.76219611C>G	GRCh37
NC_000017.9:g.73731206C>G	NCBI36
NG_029069.1:g.14335C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.405C>G MANE Select	ENSP00000324180.4:p.Ile135Met
ENST00000301633.8:c.474C>G	ENSP00000301633.3:p.Ile158Met
ENST00000350051.7:c.405C>G	ENSP00000324180.4:p.Ile135Met
ENST00000374948.6:c.287C>G	ENSP00000364086.1:p.Ser96Trp
ENST00000589892.1:n.421C>G
ENST00000590925.6:c.*207C>G	ENSP00000467336.1:n.*207C>G
NM_001012270.1:c.287C>G	NP_001012270.1:p.Ser96Trp
NM_001012271.1:c.474C>G	NP_001012271.1:p.Ile158Met
NM_001168.2:c.405C>G	NP_001159.2:p.Ile135Met
XR_243654.3:n.607C>G
XR_934452.1:n.676C>G
XR_243654.5:n.607C>G
XR_934452.3:n.676C>G
NM_001168.3:c.405C>G MANE Select	NP_001159.2:p.Ile135Met
NM_001012270.2:c.287C>G	NP_001012270.1:p.Ser96Trp
NM_001012271.2:c.474C>G	NP_001012271.1:p.Ile158Met