Canonical Allele Identifier: CA393846515

Gene: BLM

Linked Data

• dbSNP Id: rs2151184659
• MyVariant Identifiers: chr15:g.91334021G>A (hg19) ; chr15:g.90790791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790791G>A , CM000677.2:g.90790791G>A	GRCh38
NC_000015.9:g.91334021G>A , CM000677.1:g.91334021G>A	GRCh37
NC_000015.8:g.89135025G>A	NCBI36
NG_007272.1:g.78420G>A , LRG_20:g.78420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2966G>A MANE Select	ENSP00000347232.3:p.Cys989Tyr
ENST00000560559.2:n.1539G>A
ENST00000648453.1:c.2966G>A	ENSP00000497646.1:p.Cys989Tyr
ENST00000680772.1:c.2966G>A	ENSP00000506117.1:p.Cys989Tyr
ENST00000681142.1:c.2966G>A	ENSP00000506682.1:p.Cys989Tyr
ENST00000355112.7:c.2966G>A	ENSP00000347232.3:p.Cys989Tyr
ENST00000559724.5:c.*1890G>A	ENSP00000453359.1:n.*1890G>A
ENST00000560136.5:n.992G>A
ENST00000560509.5:c.2966G>A	ENSP00000454158.1:p.Cys989Tyr
ENST00000560559.1:n.503G>A
NM_000057.3:c.2966G>A	NP_000048.1:p.Cys989Tyr
NM_001287246.1:c.2966G>A	NP_001274175.1:p.Cys989Tyr
NM_001287247.1:c.2966G>A	NP_001274176.1:p.Cys989Tyr
NM_001287248.1:c.1841G>A	NP_001274177.1:p.Cys614Tyr
XM_006720632.2:c.1004G>A	XP_006720695.1:p.Cys335Tyr
XM_011521881.1:c.1652G>A	XP_011520183.1:p.Cys551Tyr
XM_011521881.2:c.1652G>A	XP_011520183.1:p.Cys551Tyr
NM_000057.4:c.2966G>A MANE Select	NP_000048.1:p.Cys989Tyr
NM_001287246.2:c.2966G>A	NP_001274175.1:p.Cys989Tyr
NM_001287247.2:c.2966G>A	NP_001274176.1:p.Cys989Tyr
NM_001287248.2:c.1841G>A	NP_001274177.1:p.Cys614Tyr