Canonical Allele Identifier: CA397316436

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933032A>T , CM000679.2:g.4933032A>T GRCh38
NC_000017.10:g.4836327A>T , CM000679.1:g.4836327A>T GRCh37
NC_000017.9:g.4777107A>T NCBI36
NG_008767.2:g.5738A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.428A>T (GP1BA) MANE Select ENSP00000329380.5:p.Gln143Leu
ENST00000649830.1:c.-888+1310T>A (CHRNE) ENSP00000496907.1:n.-888+1310T>A
ENST00000329125.5:c.428A>T (GP1BA) ENSP00000329380.5:p.Gln143Leu
ENST00000611961.1:c.428A>T (GP1BA) ENSP00000484439.1:p.Gln143Leu
NM_000173.6:c.428A>T (GP1BA) NP_000164.5:p.Gln143Leu
NM_000173.7:c.428A>T (GP1BA) MANE Select NP_000164.5:p.Gln143Leu