Canonical Allele Identifier: CA4234006

Gene: BLVRA

Linked Data

• dbSNP Id: rs17245925
• ExAC: 7:43827653 A / G
• gnomAD v2: 7-43827653-A-G
• gnomAD v3: 7-43788054-A-G
• gnomAD v4: 7-43788054-A-G
• MyVariant Identifiers: chr7:g.43827653A>G (hg19) ; chr7:g.43788054A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43788054A>G , CM000669.2:g.43788054A>G	GRCh38
NC_000007.13:g.43827653A>G , CM000669.1:g.43827653A>G	GRCh37
NC_000007.12:g.43794178A>G	NCBI36
NG_031876.1:g.34382A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.134+29A>G MANE Select	ENSP00000265523.4:n.134+29A>G
ENST00000265523.8:c.134+29A>G	ENSP00000265523.4:n.134+29A>G
ENST00000402924.5:c.134+29A>G	ENSP00000385757.1:n.134+29A>G
ENST00000424330.1:c.134+29A>G	ENSP00000412005.1:n.134+29A>G
ENST00000453612.1:n.158+29A>G
NM_000712.3:c.134+29A>G	NP_000703.2:n.134+29A>G
NM_001253823.1:c.134+29A>G	NP_001240752.1:n.134+29A>G
XM_011515474.1:c.134+29A>G	XP_011513776.1:n.134+29A>G
XR_428136.2:n.265-2296T>C
XR_927212.1:n.265-2296T>C
XR_927213.1:n.265-2296T>C
XM_011515474.3:c.134+29A>G	XP_011513776.1:n.134+29A>G
XM_017012520.2:c.134+29A>G	XP_016868009.1:n.134+29A>G
XM_024446867.1:c.134+29A>G	XP_024302635.1:n.134+29A>G
XR_001745190.1:n.266-2296T>C
NM_000712.4:c.134+29A>G MANE Select	NP_000703.2:n.134+29A>G
NM_001253823.2:c.134+29A>G	NP_001240752.1:n.134+29A>G