Canonical Allele Identifier: CA397318368

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933342G>T , CM000679.2:g.4933342G>T GRCh38
NC_000017.10:g.4836637G>T , CM000679.1:g.4836637G>T GRCh37
NC_000017.9:g.4777417G>T NCBI36
NG_008767.2:g.6048G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.738G>T (GP1BA) MANE Select ENSP00000329380.5:p.Trp246Cys
ENST00000649830.1:c.-888+1000C>A (CHRNE) ENSP00000496907.1:n.-888+1000C>A
ENST00000329125.5:c.738G>T (GP1BA) ENSP00000329380.5:p.Trp246Cys
ENST00000611961.1:c.738G>T (GP1BA) ENSP00000484439.1:p.Trp246Cys
NM_000173.6:c.738G>T (GP1BA) NP_000164.5:p.Trp246Cys
NM_000173.7:c.738G>T (GP1BA) MANE Select NP_000164.5:p.Trp246Cys