Canonical Allele Identifier: CA215028

Gene: GPIHBP1

Linked Data

• ClinVar Variation Id: 144016
• ClinVar RCV Id: RCV000133525 ; RCV000948350 ; RCV003162597 ; RCV003415969
• dbSNP Id: rs145844329
• ExAC: 8:144297361 G / C
• gnomAD v2: 8-144297361-G-C
• gnomAD v3: 8-143215486-G-C
• gnomAD v4: 8-143215486-G-C
• MyVariant Identifiers: chr8:g.144297361G>C (hg19) ; chr8:g.143215486G>C (hg38)
• PubMed: PMID:21816778

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143215486G>C , CM000670.2:g.143215486G>C	GRCh38
NC_000008.10:g.144297361G>C , CM000670.1:g.144297361G>C	GRCh37
NC_000008.9:g.144368736G>C	NCBI36
NG_034256.1:g.7294G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622500.2:c.523G>C MANE Select	ENSP00000480053.1:p.Gly175Arg
ENST00000622500.1:c.523G>C	ENSP00000480053.1:p.Gly175Arg
NM_001301772.1:c.375+148G>C	NP_001288701.1:n.375+148G>C
NM_178172.5:c.523G>C	NP_835466.2:p.Gly175Arg
NM_178172.6:c.523G>C MANE Select	NP_835466.2:p.Gly175Arg
NM_001301772.2:c.375+148G>C	NP_001288701.1:n.375+148G>C