Canonical Allele Identifier: CA4234005

Gene: BLVRA

Linked Data

• dbSNP Id: rs369440039
• ExAC: 7:43827651 T / C
• gnomAD v2: 7-43827651-T-C
• gnomAD v4: 7-43788052-T-C
• MyVariant Identifiers: chr7:g.43827651T>C (hg19) ; chr7:g.43788052T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43788052T>C , CM000669.2:g.43788052T>C	GRCh38
NC_000007.13:g.43827651T>C , CM000669.1:g.43827651T>C	GRCh37
NC_000007.12:g.43794176T>C	NCBI36
NG_031876.1:g.34380T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.134+27T>C MANE Select	ENSP00000265523.4:n.134+27T>C
ENST00000265523.8:c.134+27T>C	ENSP00000265523.4:n.134+27T>C
ENST00000402924.5:c.134+27T>C	ENSP00000385757.1:n.134+27T>C
ENST00000424330.1:c.134+27T>C	ENSP00000412005.1:n.134+27T>C
ENST00000453612.1:n.158+27T>C
NM_000712.3:c.134+27T>C	NP_000703.2:n.134+27T>C
NM_001253823.1:c.134+27T>C	NP_001240752.1:n.134+27T>C
XM_011515474.1:c.134+27T>C	XP_011513776.1:n.134+27T>C
XR_428136.2:n.265-2294A>G
XR_927212.1:n.265-2294A>G
XR_927213.1:n.265-2294A>G
XM_011515474.3:c.134+27T>C	XP_011513776.1:n.134+27T>C
XM_017012520.2:c.134+27T>C	XP_016868009.1:n.134+27T>C
XM_024446867.1:c.134+27T>C	XP_024302635.1:n.134+27T>C
XR_001745190.1:n.266-2294A>G
NM_000712.4:c.134+27T>C MANE Select	NP_000703.2:n.134+27T>C
NM_001253823.2:c.134+27T>C	NP_001240752.1:n.134+27T>C