Canonical Allele Identifier: CA397319650
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs756551644
gnomAD v2: 17-4836929-C-G
gnomAD v3: 17-4933634-C-G
gnomAD v4: 17-4933634-C-G
MyVariant Identifiers: chr17:g.4836929C>G (hg19) chr17:g.4933634C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933634C>G , CM000679.2:g.4933634C>G GRCh38
NC_000017.10:g.4836929C>G , CM000679.1:g.4836929C>G GRCh37
NC_000017.9:g.4777709C>G NCBI36
NG_008767.2:g.6340C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1030C>G (GP1BA) MANE Select ENSP00000329380.5:p.Pro344Ala
ENST00000649830.1:c.-888+708G>C (CHRNE) ENSP00000496907.1:n.-888+708G>C
ENST00000329125.5:c.1030C>G (GP1BA) ENSP00000329380.5:p.Pro344Ala
ENST00000611961.1:c.1030C>G (GP1BA) ENSP00000484439.1:p.Pro344Ala
NM_000173.6:c.1030C>G (GP1BA) NP_000164.5:p.Pro344Ala
NM_000173.7:c.1030C>G (GP1BA) MANE Select NP_000164.5:p.Pro344Ala
Search 100 bp 5'
Search 100 bp 3'