Canonical Allele Identifier: CA393851115

Gene: BLM

Linked Data

• ClinVar Variation Id: 2115325
• ClinVar RCV Id: RCV003046400
• MyVariant Identifiers: chr15:g.91354555A>T (hg19) ; chr15:g.90811325A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811325A>T , CM000677.2:g.90811325A>T	GRCh38
NC_000015.9:g.91354555A>T , CM000677.1:g.91354555A>T	GRCh37
NC_000015.8:g.89155559A>T	NCBI36
NG_007272.1:g.98954A>T , LRG_20:g.98954A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3995A>T MANE Select	ENSP00000347232.3:p.Asn1332Ile
ENST00000560559.2:n.2568A>T
ENST00000648453.1:c.3995A>T	ENSP00000497646.1:p.Asn1332Ile
ENST00000680772.1:c.3995A>T	ENSP00000506117.1:p.Asn1332Ile
ENST00000681142.1:c.3995A>T	ENSP00000506682.1:p.Asn1332Ile
ENST00000355112.7:c.3995A>T	ENSP00000347232.3:p.Asn1332Ile
ENST00000558825.5:n.1342A>T
ENST00000559724.5:c.*2919A>T	ENSP00000453359.1:n.*2919A>T
ENST00000560136.5:n.2021A>T
ENST00000560509.5:c.3602A>T	ENSP00000454158.1:p.Asn1201Ile
ENST00000560821.1:n.415A>T
NM_000057.3:c.3995A>T	NP_000048.1:p.Asn1332Ile
NM_001287246.1:c.3995A>T	NP_001274175.1:p.Asn1332Ile
NM_001287247.1:c.3602A>T	NP_001274176.1:p.Asn1201Ile
NM_001287248.1:c.2870A>T	NP_001274177.1:p.Asn957Ile
XM_006720632.2:c.2033A>T	XP_006720695.1:p.Asn678Ile
XM_011521881.1:c.2681A>T	XP_011520183.1:p.Asn894Ile
XM_011521881.2:c.2681A>T	XP_011520183.1:p.Asn894Ile
NM_000057.4:c.3995A>T MANE Select	NP_000048.1:p.Asn1332Ile
NM_001287246.2:c.3995A>T	NP_001274175.1:p.Asn1332Ile
NM_001287247.2:c.3602A>T	NP_001274176.1:p.Asn1201Ile
NM_001287248.2:c.2870A>T	NP_001274177.1:p.Asn957Ile