Canonical Allele Identifier: CA393846787

Gene: BLM

Linked Data

• ClinVar Variation Id: 1481133
• ClinVar RCV Id: RCV002022220
• dbSNP Id: rs373868675
• MyVariant Identifiers: chr15:g.91337457T>C (hg19) ; chr15:g.90794227T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794227T>C , CM000677.2:g.90794227T>C	GRCh38
NC_000015.9:g.91337457T>C , CM000677.1:g.91337457T>C	GRCh37
NC_000015.8:g.89138461T>C	NCBI36
NG_007272.1:g.81856T>C , LRG_20:g.81856T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3080T>C MANE Select	ENSP00000347232.3:p.Val1027Ala
ENST00000560559.2:n.1653T>C
ENST00000648453.1:c.3080T>C	ENSP00000497646.1:p.Val1027Ala
ENST00000680772.1:c.3080T>C	ENSP00000506117.1:p.Val1027Ala
ENST00000681142.1:c.3080T>C	ENSP00000506682.1:p.Val1027Ala
ENST00000355112.7:c.3080T>C	ENSP00000347232.3:p.Val1027Ala
ENST00000558825.5:n.427T>C
ENST00000559724.5:c.*2004T>C	ENSP00000453359.1:n.*2004T>C
ENST00000560136.5:n.1106T>C
ENST00000560509.5:c.3080T>C	ENSP00000454158.1:p.Val1027Ala
ENST00000560559.1:n.617T>C
NM_000057.3:c.3080T>C	NP_000048.1:p.Val1027Ala
NM_001287246.1:c.3080T>C	NP_001274175.1:p.Val1027Ala
NM_001287247.1:c.3080T>C	NP_001274176.1:p.Val1027Ala
NM_001287248.1:c.1955T>C	NP_001274177.1:p.Val652Ala
XM_006720632.2:c.1118T>C	XP_006720695.1:p.Val373Ala
XM_011521881.1:c.1766T>C	XP_011520183.1:p.Val589Ala
XM_011521881.2:c.1766T>C	XP_011520183.1:p.Val589Ala
NM_000057.4:c.3080T>C MANE Select	NP_000048.1:p.Val1027Ala
NM_001287246.2:c.3080T>C	NP_001274175.1:p.Val1027Ala
NM_001287247.2:c.3080T>C	NP_001274176.1:p.Val1027Ala
NM_001287248.2:c.1955T>C	NP_001274177.1:p.Val652Ala