Canonical Allele Identifier: CA2635578046

Gene: GP1BA CHRNE

Linked Data

• gnomAD v4: 17-4932427-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932427C>A , CM000679.2:g.4932427C>A	GRCh38
NC_000017.10:g.4835722C>A , CM000679.1:g.4835722C>A	GRCh37
NC_000017.9:g.4776502C>A	NCBI36
NG_008767.2:g.5133C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.-7+62C>A (GP1BA) MANE Select	ENSP00000329380.5:n.-7+62C>A
ENST00000649830.1:c.-888+1915G>T (CHRNE)	ENSP00000496907.1:n.-888+1915G>T
ENST00000329125.5:c.-7+62C>A (GP1BA)	ENSP00000329380.5:n.-7+62C>A
ENST00000611961.1:c.-7+62C>A (GP1BA)	ENSP00000484439.1:n.-7+62C>A
NM_000173.6:c.-7+62C>A (GP1BA)	NP_000164.5:n.-7+62C>A
NM_000173.7:c.-7+62C>A (GP1BA) MANE Select	NP_000164.5:n.-7+62C>A