Canonical Allele Identifier: CA7738910

Gene: BLM

Linked Data

• ClinVar Variation Id: 454125
• ClinVar RCV Id: RCV000559098 ; RCV003478100
• dbSNP Id: rs761087545
• ExAC: 15:91334081 T / C
• gnomAD v2: 15-91334081-T-C
• gnomAD v3: 15-90790851-T-C
• gnomAD v4: 15-90790851-T-C
• MyVariant Identifiers: chr15:g.91334081T>C (hg19) ; chr15:g.90790851T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790851T>C , CM000677.2:g.90790851T>C	GRCh38
NC_000015.9:g.91334081T>C , CM000677.1:g.91334081T>C	GRCh37
NC_000015.8:g.89135085T>C	NCBI36
NG_007272.1:g.78480T>C , LRG_20:g.78480T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3019+7T>C MANE Select	ENSP00000347232.3:n.3019+7T>C
ENST00000560559.2:n.1592+7T>C
ENST00000648453.1:c.3019+7T>C	ENSP00000497646.1:n.3019+7T>C
ENST00000680772.1:c.3019+7T>C	ENSP00000506117.1:n.3019+7T>C
ENST00000681142.1:c.3019+7T>C	ENSP00000506682.1:n.3019+7T>C
ENST00000355112.7:c.3019+7T>C	ENSP00000347232.3:n.3019+7T>C
ENST00000559724.5:c.*1943+7T>C	ENSP00000453359.1:n.*1943+7T>C
ENST00000560136.5:n.1045+7T>C
ENST00000560509.5:c.3019+7T>C	ENSP00000454158.1:n.3019+7T>C
ENST00000560559.1:n.556+7T>C
NM_000057.3:c.3019+7T>C	NP_000048.1:n.3019+7T>C
NM_001287246.1:c.3019+7T>C	NP_001274175.1:n.3019+7T>C
NM_001287247.1:c.3019+7T>C	NP_001274176.1:n.3019+7T>C
NM_001287248.1:c.1894+7T>C	NP_001274177.1:n.1894+7T>C
XM_006720632.2:c.1057+7T>C	XP_006720695.1:n.1057+7T>C
XM_011521881.1:c.1705+7T>C	XP_011520183.1:n.1705+7T>C
XM_011521881.2:c.1705+7T>C	XP_011520183.1:n.1705+7T>C
NM_000057.4:c.3019+7T>C MANE Select	NP_000048.1:n.3019+7T>C
NM_001287246.2:c.3019+7T>C	NP_001274175.1:n.3019+7T>C
NM_001287247.2:c.3019+7T>C	NP_001274176.1:n.3019+7T>C
NM_001287248.2:c.1894+7T>C	NP_001274177.1:n.1894+7T>C