Canonical Allele Identifier: CA8315007
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs777891177
ExAC: 17:4837380 C / A
gnomAD v2: 17-4837380-C-A
gnomAD v4: 17-4934085-C-A
MyVariant Identifiers: chr17:g.4837380C>A (hg19) chr17:g.4934085C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934085C>A , CM000679.2:g.4934085C>A GRCh38
NC_000017.10:g.4837380C>A , CM000679.1:g.4837380C>A GRCh37
NC_000017.9:g.4778121C>A NCBI36
NG_008767.2:g.6791C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1481C>A (GP1BA) MANE Select ENSP00000329380.5:p.Thr494Asn
ENST00000649830.1:c.-888+257G>T (CHRNE) ENSP00000496907.1:n.-888+257G>T
ENST00000329125.5:c.1481C>A (GP1BA) ENSP00000329380.5:p.Thr494Asn
ENST00000611961.1:c.1403C>A (GP1BA) ENSP00000484439.1:p.Thr468Asn
NM_000173.6:c.1481C>A (GP1BA) NP_000164.5:p.Thr494Asn
NM_000173.7:c.1481C>A (GP1BA) MANE Select NP_000164.5:p.Thr494Asn
Search 100 bp 5'
Search 100 bp 3'