Canonical Allele Identifier: CA7738892

Gene: BLM

Linked Data

• ClinVar Variation Id: 2447177
• ClinVar RCV Id: RCV003165100
• dbSNP Id: rs554564999
• ExAC: 15:91333951 C / T
• gnomAD v2: 15-91333951-C-T
• gnomAD v3: 15-90790721-C-T
• gnomAD v4: 15-90790721-C-T
• MyVariant Identifiers: chr15:g.91333951C>T (hg19) ; chr15:g.90790721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790721C>T , CM000677.2:g.90790721C>T	GRCh38
NC_000015.9:g.91333951C>T , CM000677.1:g.91333951C>T	GRCh37
NC_000015.8:g.89134955C>T	NCBI36
NG_007272.1:g.78350C>T , LRG_20:g.78350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2896C>T MANE Select	ENSP00000347232.3:p.Leu966Phe
ENST00000560559.2:n.1469C>T
ENST00000648453.1:c.2896C>T	ENSP00000497646.1:p.Leu966Phe
ENST00000680772.1:c.2896C>T	ENSP00000506117.1:p.Leu966Phe
ENST00000681142.1:c.2896C>T	ENSP00000506682.1:p.Leu966Phe
ENST00000355112.7:c.2896C>T	ENSP00000347232.3:p.Leu966Phe
ENST00000559724.5:c.*1820C>T	ENSP00000453359.1:n.*1820C>T
ENST00000560136.5:n.922C>T
ENST00000560509.5:c.2896C>T	ENSP00000454158.1:p.Leu966Phe
ENST00000560559.1:n.433C>T
NM_000057.3:c.2896C>T	NP_000048.1:p.Leu966Phe
NM_001287246.1:c.2896C>T	NP_001274175.1:p.Leu966Phe
NM_001287247.1:c.2896C>T	NP_001274176.1:p.Leu966Phe
NM_001287248.1:c.1771C>T	NP_001274177.1:p.Leu591Phe
XM_006720632.2:c.934C>T	XP_006720695.1:p.Leu312Phe
XM_011521881.1:c.1582C>T	XP_011520183.1:p.Leu528Phe
XM_011521881.2:c.1582C>T	XP_011520183.1:p.Leu528Phe
NM_000057.4:c.2896C>T MANE Select	NP_000048.1:p.Leu966Phe
NM_001287246.2:c.2896C>T	NP_001274175.1:p.Leu966Phe
NM_001287247.2:c.2896C>T	NP_001274176.1:p.Leu966Phe
NM_001287248.2:c.1771C>T	NP_001274177.1:p.Leu591Phe