Canonical Allele Identifier: CA914146790
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1555548997
gnomAD v2: 17-4835637-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932342C>T , CM000679.2:g.4932342C>T GRCh38
NC_000017.10:g.4835637C>T , CM000679.1:g.4835637C>T GRCh37
NC_000017.9:g.4776417C>T NCBI36
NG_008767.2:g.5048C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.-30C>T (GP1BA) MANE Select ENSP00000329380.5:n.-30C>T
ENST00000649830.1:c.-888+2000G>A (CHRNE) ENSP00000496907.1:n.-888+2000G>A
ENST00000329125.5:c.-30C>T (GP1BA) ENSP00000329380.5:n.-30C>T
ENST00000611961.1:c.-30C>T (GP1BA) ENSP00000484439.1:n.-30C>T
NM_000173.6:c.-30C>T (GP1BA) NP_000164.5:n.-30C>T
NM_000173.7:c.-30C>T (GP1BA) MANE Select NP_000164.5:n.-30C>T
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