Canonical Allele Identifier: CA8314802
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs769742839
ExAC: 17:4836482 C / T
gnomAD v2: 17-4836482-C-T
MyVariant Identifiers: chr17:g.4836482C>T (hg19) chr17:g.4933187C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933187C>T , CM000679.2:g.4933187C>T GRCh38
NC_000017.10:g.4836482C>T , CM000679.1:g.4836482C>T GRCh37
NC_000017.9:g.4777262C>T NCBI36
NG_008767.2:g.5893C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.583C>T (GP1BA) MANE Select ENSP00000329380.5:p.Leu195Phe
ENST00000649830.1:c.-888+1155G>A (CHRNE) ENSP00000496907.1:n.-888+1155G>A
ENST00000329125.5:c.583C>T (GP1BA) ENSP00000329380.5:p.Leu195Phe
ENST00000611961.1:c.583C>T (GP1BA) ENSP00000484439.1:p.Leu195Phe
NM_000173.6:c.583C>T (GP1BA) NP_000164.5:p.Leu195Phe
NM_000173.7:c.583C>T (GP1BA) MANE Select NP_000164.5:p.Leu195Phe
Search 100 bp 5'
Search 100 bp 3'