Canonical Allele Identifier: CA393842095

Gene: BLM

Linked Data

• ClinVar Variation Id: 3022358
• ClinVar RCV Id: RCV003881437
• MyVariant Identifiers: chr15:g.91298093T>C (hg19) ; chr15:g.90754863T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90754863T>C , CM000677.2:g.90754863T>C	GRCh38
NC_000015.9:g.91298093T>C , CM000677.1:g.91298093T>C	GRCh37
NC_000015.8:g.89099097T>C	NCBI36
NG_007272.1:g.42492T>C , LRG_20:g.42492T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.1012T>C MANE Select	ENSP00000347232.3:p.Ser338Pro
ENST00000648453.1:c.1012T>C	ENSP00000497646.1:p.Ser338Pro
ENST00000680772.1:c.1012T>C	ENSP00000506117.1:p.Ser338Pro
ENST00000681142.1:c.1012T>C	ENSP00000506682.1:p.Ser338Pro
ENST00000355112.7:c.1012T>C	ENSP00000347232.3:p.Ser338Pro
ENST00000558599.1:n.273T>C
ENST00000559724.5:c.1012T>C	ENSP00000453359.1:p.Ser338Pro
ENST00000560509.5:c.1012T>C	ENSP00000454158.1:p.Ser338Pro
NM_000057.3:c.1012T>C	NP_000048.1:p.Ser338Pro
NM_001287246.1:c.1012T>C	NP_001274175.1:p.Ser338Pro
NM_001287247.1:c.1012T>C	NP_001274176.1:p.Ser338Pro
NM_001287248.1:c.-280T>C	NP_001274177.1:n.-280T>C
XM_011521881.1:c.-170T>C	XP_011520183.1:n.-170T>C
XM_011521882.1:c.1012T>C	XP_011520184.1:p.Ser338Pro
XM_011521881.2:c.-170T>C	XP_011520183.1:n.-170T>C
XM_011521882.3:c.1012T>C	XP_011520184.1:p.Ser338Pro
NM_000057.4:c.1012T>C MANE Select	NP_000048.1:p.Ser338Pro
NM_001287246.2:c.1012T>C	NP_001274175.1:p.Ser338Pro
NM_001287247.2:c.1012T>C	NP_001274176.1:p.Ser338Pro
NM_001287248.2:c.-280T>C	NP_001274177.1:n.-280T>C