Canonical Allele Identifier: CA128502

Gene: BLVRA

Linked Data

• ClinVar Variation Id: 29613
• ClinVar RCV Id: RCV000022452 ; RCV002267799
• dbSNP Id: rs387906596
• MyVariant Identifiers: chr7:g.43827621C>A (hg19) ; chr7:g.43788022C>A (hg38)
• PubMed: PMID:21278388

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43788022C>A , CM000669.2:g.43788022C>A	GRCh38
NC_000007.13:g.43827621C>A , CM000669.1:g.43827621C>A	GRCh37
NC_000007.12:g.43794146C>A	NCBI36
NG_031876.1:g.34350C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.131C>A MANE Select	ENSP00000265523.4:p.Ser44Ter
ENST00000265523.8:c.131C>A	ENSP00000265523.4:p.Ser44Ter
ENST00000402924.5:c.131C>A	ENSP00000385757.1:p.Ser44Ter
ENST00000424330.1:c.131C>A	ENSP00000412005.1:p.Ser44Ter
ENST00000453612.1:n.155C>A
NM_000712.3:c.131C>A	NP_000703.2:p.Ser44Ter
NM_001253823.1:c.131C>A	NP_001240752.1:p.Ser44Ter
XM_011515474.1:c.131C>A	XP_011513776.1:p.Ser44Ter
XR_428136.2:n.265-2264G>T
XR_927212.1:n.265-2264G>T
XR_927213.1:n.265-2264G>T
XM_011515474.3:c.131C>A	XP_011513776.1:p.Ser44Ter
XM_017012520.2:c.131C>A	XP_016868009.1:p.Ser44Ter
XM_024446867.1:c.131C>A	XP_024302635.1:p.Ser44Ter
XR_001745190.1:n.266-2264G>T
NM_000712.4:c.131C>A MANE Select	NP_000703.2:p.Ser44Ter
NM_001253823.2:c.131C>A	NP_001240752.1:p.Ser44Ter