Canonical Allele Identifier: CA8314741
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs748178518
ExAC: 17:4836223 G / A
gnomAD v2: 17-4836223-G-A
gnomAD v4: 17-4932928-G-A
MyVariant Identifiers: chr17:g.4836223G>A (hg19) chr17:g.4932928G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932928G>A , CM000679.2:g.4932928G>A GRCh38
NC_000017.10:g.4836223G>A , CM000679.1:g.4836223G>A GRCh37
NC_000017.9:g.4777003G>A NCBI36
NG_008767.2:g.5634G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.324G>A (GP1BA) MANE Select ENSP00000329380.5:p.Leu108=
ENST00000649830.1:c.-888+1414C>T (CHRNE) ENSP00000496907.1:n.-888+1414C>T
ENST00000329125.5:c.324G>A (GP1BA) ENSP00000329380.5:p.Leu108=
ENST00000611961.1:c.324G>A (GP1BA) ENSP00000484439.1:p.Leu108=
NM_000173.6:c.324G>A (GP1BA) NP_000164.5:p.Leu108=
NM_000173.7:c.324G>A (GP1BA) MANE Select NP_000164.5:p.Leu108=
Search 100 bp 5'
Search 100 bp 3'