Canonical Allele Identifier: CA8314719

Gene: GP1BA CHRNE

Linked Data

• ClinVar Variation Id: 1285165
• ClinVar RCV Id: RCV001700948 ; RCV001724415 ; RCV002243432 ; RCV002280905
• dbSNP Id: rs138825640
• ExAC: 17:4836105 C / T
• gnomAD v2: 17-4836105-C-T
• gnomAD v3: 17-4932810-C-T
• gnomAD v4: 17-4932810-C-T
• MyVariant Identifiers: chr17:g.4836105C>T (hg19) ; chr17:g.4932810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932810C>T , CM000679.2:g.4932810C>T	GRCh38
NC_000017.10:g.4836105C>T , CM000679.1:g.4836105C>T	GRCh37
NC_000017.9:g.4776885C>T	NCBI36
NG_008767.2:g.5516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.206C>T (GP1BA) MANE Select	ENSP00000329380.5:p.Pro69Leu
ENST00000649830.1:c.-888+1532G>A (CHRNE)	ENSP00000496907.1:n.-888+1532G>A
ENST00000329125.5:c.206C>T (GP1BA)	ENSP00000329380.5:p.Pro69Leu
ENST00000611961.1:c.206C>T (GP1BA)	ENSP00000484439.1:p.Pro69Leu
NM_000173.6:c.206C>T (GP1BA)	NP_000164.5:p.Pro69Leu
NM_000173.7:c.206C>T (GP1BA) MANE Select	NP_000164.5:p.Pro69Leu