Canonical Allele Identifier: CA7738908

Gene: BLM

Linked Data

• ClinVar Variation Id: 584503
• ClinVar RCV Id: RCV000708667 ; RCV000810866
• dbSNP Id: rs772671554
• ExAC: 15:91334069 T / C
• gnomAD v2: 15-91334069-T-C
• gnomAD v3: 15-90790839-T-C
• gnomAD v4: 15-90790839-T-C
• MyVariant Identifiers: chr15:g.91334069T>C (hg19) ; chr15:g.90790839T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790839T>C , CM000677.2:g.90790839T>C	GRCh38
NC_000015.9:g.91334069T>C , CM000677.1:g.91334069T>C	GRCh37
NC_000015.8:g.89135073T>C	NCBI36
NG_007272.1:g.78468T>C , LRG_20:g.78468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3014T>C MANE Select	ENSP00000347232.3:p.Ile1005Thr
ENST00000560559.2:n.1587T>C
ENST00000648453.1:c.3014T>C	ENSP00000497646.1:p.Ile1005Thr
ENST00000680772.1:c.3014T>C	ENSP00000506117.1:p.Ile1005Thr
ENST00000681142.1:c.3014T>C	ENSP00000506682.1:p.Ile1005Thr
ENST00000355112.7:c.3014T>C	ENSP00000347232.3:p.Ile1005Thr
ENST00000559724.5:c.*1938T>C	ENSP00000453359.1:n.*1938T>C
ENST00000560136.5:n.1040T>C
ENST00000560509.5:c.3014T>C	ENSP00000454158.1:p.Ile1005Thr
ENST00000560559.1:n.551T>C
NM_000057.3:c.3014T>C	NP_000048.1:p.Ile1005Thr
NM_001287246.1:c.3014T>C	NP_001274175.1:p.Ile1005Thr
NM_001287247.1:c.3014T>C	NP_001274176.1:p.Ile1005Thr
NM_001287248.1:c.1889T>C	NP_001274177.1:p.Ile630Thr
XM_006720632.2:c.1052T>C	XP_006720695.1:p.Ile351Thr
XM_011521881.1:c.1700T>C	XP_011520183.1:p.Ile567Thr
XM_011521881.2:c.1700T>C	XP_011520183.1:p.Ile567Thr
NM_000057.4:c.3014T>C MANE Select	NP_000048.1:p.Ile1005Thr
NM_001287246.2:c.3014T>C	NP_001274175.1:p.Ile1005Thr
NM_001287247.2:c.3014T>C	NP_001274176.1:p.Ile1005Thr
NM_001287248.2:c.1889T>C	NP_001274177.1:p.Ile630Thr