Canonical Allele Identifier: CA367335927

Gene: BLVRA

Linked Data

• MyVariant Identifiers: chr7:g.43827608A>C (hg19) ; chr7:g.43788009A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43788009A>C , CM000669.2:g.43788009A>C	GRCh38
NC_000007.13:g.43827608A>C , CM000669.1:g.43827608A>C	GRCh37
NC_000007.12:g.43794133A>C	NCBI36
NG_031876.1:g.34337A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.118A>C MANE Select	ENSP00000265523.4:p.Ile40Leu
ENST00000265523.8:c.118A>C	ENSP00000265523.4:p.Ile40Leu
ENST00000402924.5:c.118A>C	ENSP00000385757.1:p.Ile40Leu
ENST00000424330.1:c.118A>C	ENSP00000412005.1:p.Ile40Leu
ENST00000453612.1:n.142A>C
NM_000712.3:c.118A>C	NP_000703.2:p.Ile40Leu
NM_001253823.1:c.118A>C	NP_001240752.1:p.Ile40Leu
XM_011515474.1:c.118A>C	XP_011513776.1:p.Ile40Leu
XR_428136.2:n.265-2251T>G
XR_927212.1:n.265-2251T>G
XR_927213.1:n.265-2251T>G
XM_011515474.3:c.118A>C	XP_011513776.1:p.Ile40Leu
XM_017012520.2:c.118A>C	XP_016868009.1:p.Ile40Leu
XM_024446867.1:c.118A>C	XP_024302635.1:p.Ile40Leu
XR_001745190.1:n.266-2251T>G
NM_000712.4:c.118A>C MANE Select	NP_000703.2:p.Ile40Leu
NM_001253823.2:c.118A>C	NP_001240752.1:p.Ile40Leu