Canonical Allele Identifier: CA8314797

Linked Data

ClinVar Variation Id: 2647278
ClinVar RCV Id: RCV003419585
dbSNP Id: rs779062552
gnomAD v2: 17-4836470-G-A
gnomAD v4: 17-4933175-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933175G>A , CM000679.2:g.4933175G>A GRCh38
NC_000017.10:g.4836470G>A , CM000679.1:g.4836470G>A GRCh37
NC_000017.9:g.4777250G>A NCBI36
NG_008767.2:g.5881G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.571G>A (GP1BA) MANE Select ENSP00000329380.5:p.Asp191Asn
ENST00000649830.1:c.-888+1167C>T (CHRNE) ENSP00000496907.1:n.-888+1167C>T
ENST00000329125.5:c.571G>A (GP1BA) ENSP00000329380.5:p.Asp191Asn
ENST00000611961.1:c.571G>A (GP1BA) ENSP00000484439.1:p.Asp191Asn
NM_000173.6:c.571G>A (GP1BA) NP_000164.5:p.Asp191Asn
NM_000173.7:c.571G>A (GP1BA) MANE Select NP_000164.5:p.Asp191Asn