Canonical Allele Identifier: CA397321851
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4837326G>C (hg19) chr17:g.4934031G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934031G>C , CM000679.2:g.4934031G>C GRCh38
NC_000017.10:g.4837326G>C , CM000679.1:g.4837326G>C GRCh37
NC_000017.9:g.4778067G>C NCBI36
NG_008767.2:g.6737G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1427G>C (GP1BA) MANE Select ENSP00000329380.5:p.Ser476Thr
ENST00000649830.1:c.-888+311C>G (CHRNE) ENSP00000496907.1:n.-888+311C>G
ENST00000329125.5:c.1427G>C (GP1BA) ENSP00000329380.5:p.Ser476Thr
ENST00000611961.1:c.1349G>C (GP1BA) ENSP00000484439.1:p.Ser450Thr
NM_000173.6:c.1427G>C (GP1BA) NP_000164.5:p.Ser476Thr
NM_000173.7:c.1427G>C (GP1BA) MANE Select NP_000164.5:p.Ser476Thr
Search 100 bp 5'
Search 100 bp 3'