Canonical Allele Identifier: CA2808297029

Gene: GP1BA CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932413A>G , CM000679.2:g.4932413A>G	GRCh38
NC_000017.10:g.4835708A>G , CM000679.1:g.4835708A>G	GRCh37
NC_000017.9:g.4776488A>G	NCBI36
NG_008767.2:g.5119A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.-7+48A>G (GP1BA) MANE Select	ENSP00000329380.5:n.-7+48A>G
ENST00000649830.1:c.-888+1929T>C (CHRNE)	ENSP00000496907.1:n.-888+1929T>C
ENST00000329125.5:c.-7+48A>G (GP1BA)	ENSP00000329380.5:n.-7+48A>G
ENST00000611961.1:c.-7+48A>G (GP1BA)	ENSP00000484439.1:n.-7+48A>G
NM_000173.6:c.-7+48A>G (GP1BA)	NP_000164.5:n.-7+48A>G
NM_000173.7:c.-7+48A>G (GP1BA) MANE Select	NP_000164.5:n.-7+48A>G