Canonical Allele Identifier: CA497678223
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

COSMIC: COSM706963
MyVariant Identifiers: chr17:g.4836835C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933540C>T , CM000679.2:g.4933540C>T GRCh38
NC_000017.10:g.4836835C>T , CM000679.1:g.4836835C>T GRCh37
NC_000017.9:g.4777615C>T NCBI36
NG_008767.2:g.6246C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.936C>T (GP1BA) MANE Select ENSP00000329380.5:p.Val312=
ENST00000649830.1:c.-888+802G>A (CHRNE) ENSP00000496907.1:n.-888+802G>A
ENST00000329125.5:c.936C>T (GP1BA) ENSP00000329380.5:p.Val312=
ENST00000611961.1:c.936C>T (GP1BA) ENSP00000484439.1:p.Val312=
NM_000173.6:c.936C>T (GP1BA) NP_000164.5:p.Val312=
NM_000173.7:c.936C>T (GP1BA) MANE Select NP_000164.5:p.Val312=
Search 100 bp 5'
Search 100 bp 3'