Canonical Allele Identifier: CA8314801

Linked Data

ClinVar Variation Id: 1693270
ClinVar RCV Id: RCV002260538
dbSNP Id: rs368111193
gnomAD v2: 17-4836479-C-T
gnomAD v3: 17-4933184-C-T
gnomAD v4: 17-4933184-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933184C>T , CM000679.2:g.4933184C>T GRCh38
NC_000017.10:g.4836479C>T , CM000679.1:g.4836479C>T GRCh37
NC_000017.9:g.4777259C>T NCBI36
NG_008767.2:g.5890C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.580C>T (GP1BA) MANE Select ENSP00000329380.5:p.Leu194Phe
ENST00000649830.1:c.-888+1158G>A (CHRNE) ENSP00000496907.1:n.-888+1158G>A
ENST00000329125.5:c.580C>T (GP1BA) ENSP00000329380.5:p.Leu194Phe
ENST00000611961.1:c.580C>T (GP1BA) ENSP00000484439.1:p.Leu194Phe
NM_000173.6:c.580C>T (GP1BA) NP_000164.5:p.Leu194Phe
NM_000173.7:c.580C>T (GP1BA) MANE Select NP_000164.5:p.Leu194Phe