Canonical Allele Identifier: CA393844790

Gene: BLM

Linked Data

• MyVariant Identifiers: chr15:g.91310152T>A (hg19) ; chr15:g.90766922T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766922T>A , CM000677.2:g.90766922T>A	GRCh38
NC_000015.9:g.91310152T>A , CM000677.1:g.91310152T>A	GRCh37
NC_000015.8:g.89111156T>A	NCBI36
NG_007272.1:g.54551T>A , LRG_20:g.54551T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2206T>A MANE Select	ENSP00000347232.3:p.Tyr736Asn
ENST00000648453.1:c.2206T>A	ENSP00000497646.1:p.Tyr736Asn
ENST00000680772.1:c.2206T>A	ENSP00000506117.1:p.Tyr736Asn
ENST00000681142.1:c.2206T>A	ENSP00000506682.1:p.Tyr736Asn
ENST00000355112.7:c.2206T>A	ENSP00000347232.3:p.Tyr736Asn
ENST00000559426.5:n.383T>A
ENST00000559724.5:c.*1130T>A	ENSP00000453359.1:n.*1130T>A
ENST00000560136.5:n.232T>A
ENST00000560509.5:c.2206T>A	ENSP00000454158.1:p.Tyr736Asn
NM_000057.3:c.2206T>A	NP_000048.1:p.Tyr736Asn
NM_001287246.1:c.2206T>A	NP_001274175.1:p.Tyr736Asn
NM_001287247.1:c.2206T>A	NP_001274176.1:p.Tyr736Asn
NM_001287248.1:c.1081T>A	NP_001274177.1:p.Tyr361Asn
XM_006720632.2:c.244T>A	XP_006720695.1:p.Tyr82Asn
XM_011521881.1:c.892T>A	XP_011520183.1:p.Tyr298Asn
XM_011521882.1:c.2206T>A	XP_011520184.1:p.Tyr736Asn
XM_011521881.2:c.892T>A	XP_011520183.1:p.Tyr298Asn
XM_011521882.3:c.2206T>A	XP_011520184.1:p.Tyr736Asn
NM_000057.4:c.2206T>A MANE Select	NP_000048.1:p.Tyr736Asn
NM_001287246.2:c.2206T>A	NP_001274175.1:p.Tyr736Asn
NM_001287247.2:c.2206T>A	NP_001274176.1:p.Tyr736Asn
NM_001287248.2:c.1081T>A	NP_001274177.1:p.Tyr361Asn