Canonical Allele Identifier: CA393850995

Gene: BLM

Linked Data

• gnomAD v4: 15-90811306-T-C
• MyVariant Identifiers: chr15:g.91354536T>C (hg19) ; chr15:g.90811306T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811306T>C , CM000677.2:g.90811306T>C	GRCh38
NC_000015.9:g.91354536T>C , CM000677.1:g.91354536T>C	GRCh37
NC_000015.8:g.89155540T>C	NCBI36
NG_007272.1:g.98935T>C , LRG_20:g.98935T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3976T>C MANE Select	ENSP00000347232.3:p.Phe1326Leu
ENST00000560559.2:n.2549T>C
ENST00000648453.1:c.3976T>C	ENSP00000497646.1:p.Phe1326Leu
ENST00000680772.1:c.3976T>C	ENSP00000506117.1:p.Phe1326Leu
ENST00000681142.1:c.3976T>C	ENSP00000506682.1:p.Phe1326Leu
ENST00000355112.7:c.3976T>C	ENSP00000347232.3:p.Phe1326Leu
ENST00000558825.5:n.1323T>C
ENST00000559724.5:c.*2900T>C	ENSP00000453359.1:n.*2900T>C
ENST00000560136.5:n.2002T>C
ENST00000560509.5:c.3583T>C	ENSP00000454158.1:p.Phe1195Leu
ENST00000560821.1:n.396T>C
NM_000057.3:c.3976T>C	NP_000048.1:p.Phe1326Leu
NM_001287246.1:c.3976T>C	NP_001274175.1:p.Phe1326Leu
NM_001287247.1:c.3583T>C	NP_001274176.1:p.Phe1195Leu
NM_001287248.1:c.2851T>C	NP_001274177.1:p.Phe951Leu
XM_006720632.2:c.2014T>C	XP_006720695.1:p.Phe672Leu
XM_011521881.1:c.2662T>C	XP_011520183.1:p.Phe888Leu
XM_011521881.2:c.2662T>C	XP_011520183.1:p.Phe888Leu
NM_000057.4:c.3976T>C MANE Select	NP_000048.1:p.Phe1326Leu
NM_001287246.2:c.3976T>C	NP_001274175.1:p.Phe1326Leu
NM_001287247.2:c.3583T>C	NP_001274176.1:p.Phe1195Leu
NM_001287248.2:c.2851T>C	NP_001274177.1:p.Phe951Leu