Canonical Allele Identifier: CA128499

Gene: BLVRA

Linked Data

• ClinVar Variation Id: 29612
• ClinVar RCV Id: RCV000022451
• dbSNP Id: rs387906595
• ExAC: 7:43827542 C / T
• gnomAD v2: 7-43827542-C-T
• gnomAD v4: 7-43787943-C-T
• MyVariant Identifiers: chr7:g.43827542C>T (hg19) ; chr7:g.43787943C>T (hg38)
• PubMed: PMID:19580635

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43787943C>T , CM000669.2:g.43787943C>T	GRCh38
NC_000007.13:g.43827542C>T , CM000669.1:g.43827542C>T	GRCh37
NC_000007.12:g.43794067C>T	NCBI36
NG_031876.1:g.34271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.52C>T MANE Select	ENSP00000265523.4:p.Arg18Ter
ENST00000265523.8:c.52C>T	ENSP00000265523.4:p.Arg18Ter
ENST00000402924.5:c.52C>T	ENSP00000385757.1:p.Arg18Ter
ENST00000424330.1:c.52C>T	ENSP00000412005.1:p.Arg18Ter
ENST00000453612.1:n.76C>T
NM_000712.3:c.52C>T	NP_000703.2:p.Arg18Ter
NM_001253823.1:c.52C>T	NP_001240752.1:p.Arg18Ter
XM_011515474.1:c.52C>T	XP_011513776.1:p.Arg18Ter
XR_428136.2:n.265-2185G>A
XR_927212.1:n.265-2185G>A
XR_927213.1:n.265-2185G>A
XM_011515474.3:c.52C>T	XP_011513776.1:p.Arg18Ter
XM_017012520.2:c.52C>T	XP_016868009.1:p.Arg18Ter
XM_024446867.1:c.52C>T	XP_024302635.1:p.Arg18Ter
XR_001745190.1:n.266-2185G>A
NM_000712.4:c.52C>T MANE Select	NP_000703.2:p.Arg18Ter
NM_001253823.2:c.52C>T	NP_001240752.1:p.Arg18Ter