Canonical Allele Identifier: CA8314806
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs773910086
ExAC: 17:4836498 T / C
gnomAD v2: 17-4836498-T-C
gnomAD v4: 17-4933203-T-C
MyVariant Identifiers: chr17:g.4836498T>C (hg19) chr17:g.4933203T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933203T>C , CM000679.2:g.4933203T>C GRCh38
NC_000017.10:g.4836498T>C , CM000679.1:g.4836498T>C GRCh37
NC_000017.9:g.4777278T>C NCBI36
NG_008767.2:g.5909T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.599T>C (GP1BA) MANE Select ENSP00000329380.5:p.Leu200Pro
ENST00000649830.1:c.-888+1139A>G (CHRNE) ENSP00000496907.1:n.-888+1139A>G
ENST00000329125.5:c.599T>C (GP1BA) ENSP00000329380.5:p.Leu200Pro
ENST00000611961.1:c.599T>C (GP1BA) ENSP00000484439.1:p.Leu200Pro
NM_000173.6:c.599T>C (GP1BA) NP_000164.5:p.Leu200Pro
NM_000173.7:c.599T>C (GP1BA) MANE Select NP_000164.5:p.Leu200Pro
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