Canonical Allele Identifier: CA116657

Linked Data

ClinVar Variation Id: 4151
ClinVar RCV Id: RCV000004367
dbSNP Id: rs121908061
gnomAD v3: 17-4933681-G-A
gnomAD v4: 17-4933681-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933681G>A , CM000679.2:g.4933681G>A GRCh38
NC_000017.10:g.4836976G>A , CM000679.1:g.4836976G>A GRCh37
NC_000017.9:g.4777756G>A NCBI36
NG_008767.2:g.6387G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000329125.6:c.1077G>A (GP1BA) MANE Select ENSP00000329380.5:p.Trp359Ter
ENST00000649830.1:c.-888+661C>T (CHRNE) ENSP00000496907.1:n.-888+661C>T
ENST00000329125.5:c.1077G>A (GP1BA) ENSP00000329380.5:p.Trp359Ter
ENST00000611961.1:c.1077G>A (GP1BA) ENSP00000484439.1:p.Trp359Ter
NM_000173.6:c.1077G>A (GP1BA) NP_000164.5:p.Trp359Ter
NM_000173.7:c.1077G>A (GP1BA) MANE Select NP_000164.5:p.Trp359Ter