Canonical Allele Identifier: CA397320244
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1463500579
gnomAD v2: 17-4837046-A-G
MyVariant Identifiers: chr17:g.4837046A>G (hg19) chr17:g.4933751A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933751A>G , CM000679.2:g.4933751A>G GRCh38
NC_000017.10:g.4837046A>G , CM000679.1:g.4837046A>G GRCh37
NC_000017.9:g.4777826A>G NCBI36
NG_008767.2:g.6457A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1147A>G (GP1BA) MANE Select ENSP00000329380.5:p.Thr383Ala
ENST00000649830.1:c.-888+591T>C (CHRNE) ENSP00000496907.1:n.-888+591T>C
ENST00000329125.5:c.1147A>G (GP1BA) ENSP00000329380.5:p.Thr383Ala
ENST00000611961.1:c.1147A>G (GP1BA) ENSP00000484439.1:p.Thr383Ala
NM_000173.6:c.1147A>G (GP1BA) NP_000164.5:p.Thr383Ala
NM_000173.7:c.1147A>G (GP1BA) MANE Select NP_000164.5:p.Thr383Ala
Search 100 bp 5'
Search 100 bp 3'