Canonical Allele Identifier: CA287216396

Gene: GP1BA CHRNE

Linked Data

• ClinVar Variation Id: 627355
• ClinVar RCV Id: RCV000852183 ; RCV003424331
• dbSNP Id: rs374928728
• gnomAD v2: 17-4836557-G-A
• gnomAD v3: 17-4933262-G-A
• gnomAD v4: 17-4933262-G-A
• MyVariant Identifiers: chr17:g.4836557G>A (hg19) ; chr17:g.4933262G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933262G>A , CM000679.2:g.4933262G>A	GRCh38
NC_000017.10:g.4836557G>A , CM000679.1:g.4836557G>A	GRCh37
NC_000017.9:g.4777337G>A	NCBI36
NG_008767.2:g.5968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.658G>A (GP1BA) MANE Select	ENSP00000329380.5:p.Gly220Arg
ENST00000649830.1:c.-888+1080C>T (CHRNE)	ENSP00000496907.1:n.-888+1080C>T
ENST00000329125.5:c.658G>A (GP1BA)	ENSP00000329380.5:p.Gly220Arg
ENST00000611961.1:c.658G>A (GP1BA)	ENSP00000484439.1:p.Gly220Arg
NM_000173.6:c.658G>A (GP1BA)	NP_000164.5:p.Gly220Arg
NM_000173.7:c.658G>A (GP1BA) MANE Select	NP_000164.5:p.Gly220Arg