Canonical Allele Identifier: CA4234002

Gene: BLVRA

Linked Data

• dbSNP Id: rs387906596
• ExAC: 7:43827621 C / G
• gnomAD v2: 7-43827621-C-G
• gnomAD v4: 7-43788022-C-G
• MyVariant Identifiers: chr7:g.43827621C>G (hg19) ; chr7:g.43788022C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000265523.9:c.131C>G MANE Select	ENSP00000265523.4:p.Ser44Trp
ENST00000265523.8:c.131C>G	ENSP00000265523.4:p.Ser44Trp
ENST00000402924.5:c.131C>G	ENSP00000385757.1:p.Ser44Trp
ENST00000424330.1:c.131C>G	ENSP00000412005.1:p.Ser44Trp
ENST00000453612.1:n.155C>G
NM_000712.3:c.131C>G	NP_000703.2:p.Ser44Trp
NM_001253823.1:c.131C>G	NP_001240752.1:p.Ser44Trp
XM_011515474.1:c.131C>G	XP_011513776.1:p.Ser44Trp
XR_428136.2:n.265-2264G>C
XR_927212.1:n.265-2264G>C
XR_927213.1:n.265-2264G>C
XM_011515474.3:c.131C>G	XP_011513776.1:p.Ser44Trp
XM_017012520.2:c.131C>G	XP_016868009.1:p.Ser44Trp
XM_024446867.1:c.131C>G	XP_024302635.1:p.Ser44Trp
XR_001745190.1:n.266-2264G>C
NM_000712.4:c.131C>G MANE Select	NP_000703.2:p.Ser44Trp
NM_001253823.2:c.131C>G	NP_001240752.1:p.Ser44Trp