Canonical Allele Identifier: CA2635578002

Gene: GP1BA CHRNE

Linked Data

• gnomAD v4: 17-4932394-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932394G>A , CM000679.2:g.4932394G>A	GRCh38
NC_000017.10:g.4835689G>A , CM000679.1:g.4835689G>A	GRCh37
NC_000017.9:g.4776469G>A	NCBI36
NG_008767.2:g.5100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.-7+29G>A (GP1BA) MANE Select	ENSP00000329380.5:n.-7+29G>A
ENST00000649830.1:c.-888+1948C>T (CHRNE)	ENSP00000496907.1:n.-888+1948C>T
ENST00000329125.5:c.-7+29G>A (GP1BA)	ENSP00000329380.5:n.-7+29G>A
ENST00000611961.1:c.-7+29G>A (GP1BA)	ENSP00000484439.1:n.-7+29G>A
NM_000173.6:c.-7+29G>A (GP1BA)	NP_000164.5:n.-7+29G>A
NM_000173.7:c.-7+29G>A (GP1BA) MANE Select	NP_000164.5:n.-7+29G>A