Canonical Allele Identifier: CA397320978
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4837248C>A (hg19) chr17:g.4933953C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933953C>A , CM000679.2:g.4933953C>A GRCh38
NC_000017.10:g.4837248C>A , CM000679.1:g.4837248C>A GRCh37
NC_000017.9:g.4777989C>A NCBI36
NG_008767.2:g.6659C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1349C>A (GP1BA) MANE Select ENSP00000329380.5:p.Pro450Gln
ENST00000649830.1:c.-888+389G>T (CHRNE) ENSP00000496907.1:n.-888+389G>T
ENST00000329125.5:c.1349C>A (GP1BA) ENSP00000329380.5:p.Pro450Gln
ENST00000611961.1:c.1273-2C>A (GP1BA) ENSP00000484439.1:n.1273-2C>A
NM_000173.6:c.1349C>A (GP1BA) NP_000164.5:p.Pro450Gln
NM_000173.7:c.1349C>A (GP1BA) MANE Select NP_000164.5:p.Pro450Gln
Search 100 bp 5'
Search 100 bp 3'