Canonical Allele Identifier: CA393850420

Gene: BLM

Linked Data

• MyVariant Identifiers: chr15:g.91354449C>G (hg19) ; chr15:g.90811219C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90811219C>G , CM000677.2:g.90811219C>G	GRCh38
NC_000015.9:g.91354449C>G , CM000677.1:g.91354449C>G	GRCh37
NC_000015.8:g.89155453C>G	NCBI36
NG_007272.1:g.98848C>G , LRG_20:g.98848C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3889C>G MANE Select	ENSP00000347232.3:p.Pro1297Ala
ENST00000560559.2:n.2462C>G
ENST00000648453.1:c.3889C>G	ENSP00000497646.1:p.Pro1297Ala
ENST00000680772.1:c.3889C>G	ENSP00000506117.1:p.Pro1297Ala
ENST00000681142.1:c.3889C>G	ENSP00000506682.1:p.Pro1297Ala
ENST00000355112.7:c.3889C>G	ENSP00000347232.3:p.Pro1297Ala
ENST00000558825.5:n.1236C>G
ENST00000559724.5:c.*2813C>G	ENSP00000453359.1:n.*2813C>G
ENST00000560136.5:n.1915C>G
ENST00000560509.5:c.3496C>G	ENSP00000454158.1:p.Pro1166Ala
ENST00000560821.1:n.309C>G
NM_000057.3:c.3889C>G	NP_000048.1:p.Pro1297Ala
NM_001287246.1:c.3889C>G	NP_001274175.1:p.Pro1297Ala
NM_001287247.1:c.3496C>G	NP_001274176.1:p.Pro1166Ala
NM_001287248.1:c.2764C>G	NP_001274177.1:p.Pro922Ala
XM_006720632.2:c.1927C>G	XP_006720695.1:p.Pro643Ala
XM_011521881.1:c.2575C>G	XP_011520183.1:p.Pro859Ala
XM_011521881.2:c.2575C>G	XP_011520183.1:p.Pro859Ala
NM_000057.4:c.3889C>G MANE Select	NP_000048.1:p.Pro1297Ala
NM_001287246.2:c.3889C>G	NP_001274175.1:p.Pro1297Ala
NM_001287247.2:c.3496C>G	NP_001274176.1:p.Pro1166Ala
NM_001287248.2:c.2764C>G	NP_001274177.1:p.Pro922Ala