Canonical Allele Identifier: CA397317178
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4836437C>A (hg19) chr17:g.4933142C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933142C>A , CM000679.2:g.4933142C>A GRCh38
NC_000017.10:g.4836437C>A , CM000679.1:g.4836437C>A GRCh37
NC_000017.9:g.4777217C>A NCBI36
NG_008767.2:g.5848C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.538C>A (GP1BA) MANE Select ENSP00000329380.5:p.Pro180Thr
ENST00000649830.1:c.-888+1200G>T (CHRNE) ENSP00000496907.1:n.-888+1200G>T
ENST00000329125.5:c.538C>A (GP1BA) ENSP00000329380.5:p.Pro180Thr
ENST00000611961.1:c.538C>A (GP1BA) ENSP00000484439.1:p.Pro180Thr
NM_000173.6:c.538C>A (GP1BA) NP_000164.5:p.Pro180Thr
NM_000173.7:c.538C>A (GP1BA) MANE Select NP_000164.5:p.Pro180Thr
Search 100 bp 5'
Search 100 bp 3'