Canonical Allele Identifier: CA353801157

Gene: BTLA

Linked Data

• gnomAD v4: 3-112466167-G-C
• MyVariant Identifiers: chr3:g.112185014G>C (hg19) ; chr3:g.112466167G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.112466167G>C , CM000665.2:g.112466167G>C	GRCh38
NC_000003.11:g.112185014G>C , CM000665.1:g.112185014G>C	GRCh37
NC_000003.10:g.113667704G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334529.10:c.811C>G MANE Select	ENSP00000333919.5:p.Leu271Val
ENST00000334529.9:c.811C>G	ENSP00000333919.5:p.Leu271Val
ENST00000383680.4:c.667C>G	ENSP00000373178.4:p.Leu223Val
ENST00000474965.1:n.315C>G
NM_001085357.1:c.667C>G	NP_001078826.1:p.Leu223Val
NM_181780.3:c.811C>G	NP_861445.3:p.Leu271Val
XM_011512446.1:c.829C>G	XP_011510748.1:p.Leu277Val
XM_011512447.1:c.829C>G	XP_011510749.1:p.Leu277Val
XM_011512447.3:c.829C>G	XP_011510749.1:p.Leu277Val
XM_017005748.2:c.811C>G	XP_016861237.1:p.Leu271Val
NM_181780.4:c.811C>G MANE Select	NP_861445.4:p.Leu271Val
NM_001085357.2:c.667C>G	NP_001078826.1:p.Leu223Val