Canonical Allele Identifier: CA8314782
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 226006
ClinVar RCV Id: RCV001651070 RCV000246607
dbSNP Id: rs6065
ExAC: 17:4836381 C / T
gnomAD v2: 17-4836381-C-T
gnomAD v3: 17-4933086-C-T
gnomAD v4: 17-4933086-C-T
MyVariant Identifiers: chr17:g.4836381C>T (hg19) chr17:g.4933086C>T (hg38)
PubMed: PMID:17245331 PMID:18417193 PMID:22992668
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933086C>T , CM000679.2:g.4933086C>T GRCh38
NC_000017.10:g.4836381C>T , CM000679.1:g.4836381C>T GRCh37
NC_000017.9:g.4777161C>T NCBI36
NG_008767.2:g.5792C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.482C>T (GP1BA) MANE Select ENSP00000329380.5:p.Thr161Met
ENST00000649830.1:c.-888+1256G>A (CHRNE) ENSP00000496907.1:n.-888+1256G>A
ENST00000329125.5:c.482C>T (GP1BA) ENSP00000329380.5:p.Thr161Met
ENST00000611961.1:c.482C>T (GP1BA) ENSP00000484439.1:p.Thr161Met
NM_000173.6:c.482C>T (GP1BA) NP_000164.5:p.Thr161Met
NM_000173.7:c.482C>T (GP1BA) MANE Select NP_000164.5:p.Thr161Met
Search 100 bp 5'
Search 100 bp 3'