Canonical Allele Identifier: CA397321032

Linked Data

gnomAD v4: 17-4933976-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933976A>T , CM000679.2:g.4933976A>T GRCh38
NC_000017.10:g.4837271A>T , CM000679.1:g.4837271A>T GRCh37
NC_000017.9:g.4778012A>T NCBI36
NG_008767.2:g.6682A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1372A>T (GP1BA) MANE Select ENSP00000329380.5:p.Ile458Phe
ENST00000649830.1:c.-888+366T>A (CHRNE) ENSP00000496907.1:n.-888+366T>A
ENST00000329125.5:c.1372A>T (GP1BA) ENSP00000329380.5:p.Ile458Phe
ENST00000611961.1:c.1294A>T (GP1BA) ENSP00000484439.1:p.Ile432Phe
NM_000173.6:c.1372A>T (GP1BA) NP_000164.5:p.Ile458Phe
NM_000173.7:c.1372A>T (GP1BA) MANE Select NP_000164.5:p.Ile458Phe