Canonical Allele Identifier: CA492159657

Gene: BLM

Linked Data

• ClinVar Variation Id: 733006
• ClinVar RCV Id: RCV001869317
• dbSNP Id: rs1596235728
• gnomAD v3: 15-90766918-T-C
• gnomAD v4: 15-90766918-T-C
• MyVariant Identifiers: chr15:g.91310148T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766918T>C , CM000677.2:g.90766918T>C	GRCh38
NC_000015.9:g.91310148T>C , CM000677.1:g.91310148T>C	GRCh37
NC_000015.8:g.89111152T>C	NCBI36
NG_007272.1:g.54547T>C , LRG_20:g.54547T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2202T>C MANE Select	ENSP00000347232.3:p.Ala734=
ENST00000648453.1:c.2202T>C	ENSP00000497646.1:p.Ala734=
ENST00000680772.1:c.2202T>C	ENSP00000506117.1:p.Ala734=
ENST00000681142.1:c.2202T>C	ENSP00000506682.1:p.Ala734=
ENST00000355112.7:c.2202T>C	ENSP00000347232.3:p.Ala734=
ENST00000559426.5:n.379T>C
ENST00000559724.5:c.*1126T>C	ENSP00000453359.1:n.*1126T>C
ENST00000560136.5:n.228T>C
ENST00000560509.5:c.2202T>C	ENSP00000454158.1:p.Ala734=
NM_000057.3:c.2202T>C	NP_000048.1:p.Ala734=
NM_001287246.1:c.2202T>C	NP_001274175.1:p.Ala734=
NM_001287247.1:c.2202T>C	NP_001274176.1:p.Ala734=
NM_001287248.1:c.1077T>C	NP_001274177.1:p.Ala359=
XM_006720632.2:c.240T>C	XP_006720695.1:p.Ala80=
XM_011521881.1:c.888T>C	XP_011520183.1:p.Ala296=
XM_011521882.1:c.2202T>C	XP_011520184.1:p.Ala734=
XM_011521881.2:c.888T>C	XP_011520183.1:p.Ala296=
XM_011521882.3:c.2202T>C	XP_011520184.1:p.Ala734=
NM_000057.4:c.2202T>C MANE Select	NP_000048.1:p.Ala734=
NM_001287246.2:c.2202T>C	NP_001274175.1:p.Ala734=
NM_001287247.2:c.2202T>C	NP_001274176.1:p.Ala734=
NM_001287248.2:c.1077T>C	NP_001274177.1:p.Ala359=