Canonical Allele Identifier: CA7739029

Gene: BLM

Linked Data

• ClinVar Variation Id: 405312
• ClinVar RCV Id: RCV000475513 ; RCV000708668
• dbSNP Id: rs771776126
• ExAC: 15:91346808 G / C
• gnomAD v2: 15-91346808-G-C
• gnomAD v4: 15-90803578-G-C
• MyVariant Identifiers: chr15:g.91346808G>C (hg19) ; chr15:g.90803578G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90803578G>C , CM000677.2:g.90803578G>C	GRCh38
NC_000015.9:g.91346808G>C , CM000677.1:g.91346808G>C	GRCh37
NC_000015.8:g.89147812G>C	NCBI36
NG_007272.1:g.91207G>C , LRG_20:g.91207G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3416G>C MANE Select	ENSP00000347232.3:p.Arg1139Pro
ENST00000560559.2:n.1989G>C
ENST00000648453.1:c.3416G>C	ENSP00000497646.1:p.Arg1139Pro
ENST00000680772.1:c.3416G>C	ENSP00000506117.1:p.Arg1139Pro
ENST00000681142.1:c.3416G>C	ENSP00000506682.1:p.Arg1139Pro
ENST00000355112.7:c.3416G>C	ENSP00000347232.3:p.Arg1139Pro
ENST00000558825.5:n.763G>C
ENST00000559724.5:c.*2340G>C	ENSP00000453359.1:n.*2340G>C
ENST00000560136.5:n.1442G>C
ENST00000560509.5:c.3358+5241G>C	ENSP00000454158.1:n.3358+5241G>C
NM_000057.3:c.3416G>C	NP_000048.1:p.Arg1139Pro
NM_001287246.1:c.3416G>C	NP_001274175.1:p.Arg1139Pro
NM_001287247.1:c.3358+5241G>C	NP_001274176.1:n.3358+5241G>C
NM_001287248.1:c.2291G>C	NP_001274177.1:p.Arg764Pro
XM_006720632.2:c.1454G>C	XP_006720695.1:p.Arg485Pro
XM_011521881.1:c.2102G>C	XP_011520183.1:p.Arg701Pro
XM_011521881.2:c.2102G>C	XP_011520183.1:p.Arg701Pro
NM_000057.4:c.3416G>C MANE Select	NP_000048.1:p.Arg1139Pro
NM_001287246.2:c.3416G>C	NP_001274175.1:p.Arg1139Pro
NM_001287247.2:c.3358+5241G>C	NP_001274176.1:n.3358+5241G>C
NM_001287248.2:c.2291G>C	NP_001274177.1:p.Arg764Pro