Canonical Allele Identifier: CA393850897

Gene: BLM

Linked Data

• ClinVar Variation Id: 2139875
• ClinVar RCV Id: RCV003052825
• gnomAD v4: 15-90811291-G-T
• COSMIC: COSM4416980
• MyVariant Identifiers: chr15:g.91354521G>T (hg19) ; chr15:g.90811291G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811291G>T , CM000677.2:g.90811291G>T	GRCh38
NC_000015.9:g.91354521G>T , CM000677.1:g.91354521G>T	GRCh37
NC_000015.8:g.89155525G>T	NCBI36
NG_007272.1:g.98920G>T , LRG_20:g.98920G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3961G>T MANE Select	ENSP00000347232.3:p.Val1321Leu
ENST00000560559.2:n.2534G>T
ENST00000648453.1:c.3961G>T	ENSP00000497646.1:p.Val1321Leu
ENST00000680772.1:c.3961G>T	ENSP00000506117.1:p.Val1321Leu
ENST00000681142.1:c.3961G>T	ENSP00000506682.1:p.Val1321Leu
ENST00000355112.7:c.3961G>T	ENSP00000347232.3:p.Val1321Leu
ENST00000558825.5:n.1308G>T
ENST00000559724.5:c.*2885G>T	ENSP00000453359.1:n.*2885G>T
ENST00000560136.5:n.1987G>T
ENST00000560509.5:c.3568G>T	ENSP00000454158.1:p.Val1190Leu
ENST00000560821.1:n.381G>T
NM_000057.3:c.3961G>T	NP_000048.1:p.Val1321Leu
NM_001287246.1:c.3961G>T	NP_001274175.1:p.Val1321Leu
NM_001287247.1:c.3568G>T	NP_001274176.1:p.Val1190Leu
NM_001287248.1:c.2836G>T	NP_001274177.1:p.Val946Leu
XM_006720632.2:c.1999G>T	XP_006720695.1:p.Val667Leu
XM_011521881.1:c.2647G>T	XP_011520183.1:p.Val883Leu
XM_011521881.2:c.2647G>T	XP_011520183.1:p.Val883Leu
NM_000057.4:c.3961G>T MANE Select	NP_000048.1:p.Val1321Leu
NM_001287246.2:c.3961G>T	NP_001274175.1:p.Val1321Leu
NM_001287247.2:c.3568G>T	NP_001274176.1:p.Val1190Leu
NM_001287248.2:c.2836G>T	NP_001274177.1:p.Val946Leu