Canonical Allele Identifier: CA4233998

Gene: BLVRA

Linked Data

• dbSNP Id: rs530389071
• ExAC: 7:43827609 T / C
• gnomAD v2: 7-43827609-T-C
• gnomAD v3: 7-43788010-T-C
• gnomAD v4: 7-43788010-T-C
• MyVariant Identifiers: chr7:g.43827609T>C (hg19) ; chr7:g.43788010T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43788010T>C , CM000669.2:g.43788010T>C	GRCh38
NC_000007.13:g.43827609T>C , CM000669.1:g.43827609T>C	GRCh37
NC_000007.12:g.43794134T>C	NCBI36
NG_031876.1:g.34338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.119T>C MANE Select	ENSP00000265523.4:p.Ile40Thr
ENST00000265523.8:c.119T>C	ENSP00000265523.4:p.Ile40Thr
ENST00000402924.5:c.119T>C	ENSP00000385757.1:p.Ile40Thr
ENST00000424330.1:c.119T>C	ENSP00000412005.1:p.Ile40Thr
ENST00000453612.1:n.143T>C
NM_000712.3:c.119T>C	NP_000703.2:p.Ile40Thr
NM_001253823.1:c.119T>C	NP_001240752.1:p.Ile40Thr
XM_011515474.1:c.119T>C	XP_011513776.1:p.Ile40Thr
XR_428136.2:n.265-2252A>G
XR_927212.1:n.265-2252A>G
XR_927213.1:n.265-2252A>G
XM_011515474.3:c.119T>C	XP_011513776.1:p.Ile40Thr
XM_017012520.2:c.119T>C	XP_016868009.1:p.Ile40Thr
XM_024446867.1:c.119T>C	XP_024302635.1:p.Ile40Thr
XR_001745190.1:n.266-2252A>G
NM_000712.4:c.119T>C MANE Select	NP_000703.2:p.Ile40Thr
NM_001253823.2:c.119T>C	NP_001240752.1:p.Ile40Thr