Canonical Allele Identifier: CA397317247
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1318798
ClinVar RCV Id: RCV001768422
dbSNP Id: rs2151107892
MyVariant Identifiers: chr17:g.4836450T>A (hg19) chr17:g.4933155T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933155T>A , CM000679.2:g.4933155T>A GRCh38
NC_000017.10:g.4836450T>A , CM000679.1:g.4836450T>A GRCh37
NC_000017.9:g.4777230T>A NCBI36
NG_008767.2:g.5861T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.551T>A (GP1BA) MANE Select ENSP00000329380.5:p.Leu184Gln
ENST00000649830.1:c.-888+1187A>T (CHRNE) ENSP00000496907.1:n.-888+1187A>T
ENST00000329125.5:c.551T>A (GP1BA) ENSP00000329380.5:p.Leu184Gln
ENST00000611961.1:c.551T>A (GP1BA) ENSP00000484439.1:p.Leu184Gln
NM_000173.6:c.551T>A (GP1BA) NP_000164.5:p.Leu184Gln
NM_000173.7:c.551T>A (GP1BA) MANE Select NP_000164.5:p.Leu184Gln
Search 100 bp 5'
Search 100 bp 3'