Canonical Allele Identifier: CA397319299
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs779720112
MyVariant Identifiers: chr17:g.4836834T>C (hg19) chr17:g.4933539T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933539T>C , CM000679.2:g.4933539T>C GRCh38
NC_000017.10:g.4836834T>C , CM000679.1:g.4836834T>C GRCh37
NC_000017.9:g.4777614T>C NCBI36
NG_008767.2:g.6245T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.935T>C (GP1BA) MANE Select ENSP00000329380.5:p.Val312Ala
ENST00000649830.1:c.-888+803A>G (CHRNE) ENSP00000496907.1:n.-888+803A>G
ENST00000329125.5:c.935T>C (GP1BA) ENSP00000329380.5:p.Val312Ala
ENST00000611961.1:c.935T>C (GP1BA) ENSP00000484439.1:p.Val312Ala
NM_000173.6:c.935T>C (GP1BA) NP_000164.5:p.Val312Ala
NM_000173.7:c.935T>C (GP1BA) MANE Select NP_000164.5:p.Val312Ala
Search 100 bp 5'
Search 100 bp 3'