Canonical Allele Identifier: CA497678132
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1970386210
gnomAD v4: 17-4934023-T-C
MyVariant Identifiers: chr17:g.4837318T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934023T>C , CM000679.2:g.4934023T>C GRCh38
NC_000017.10:g.4837318T>C , CM000679.1:g.4837318T>C GRCh37
NC_000017.9:g.4778059T>C NCBI36
NG_008767.2:g.6729T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1419T>C (GP1BA) MANE Select ENSP00000329380.5:p.Thr473=
ENST00000649830.1:c.-888+319A>G (CHRNE) ENSP00000496907.1:n.-888+319A>G
ENST00000329125.5:c.1419T>C (GP1BA) ENSP00000329380.5:p.Thr473=
ENST00000611961.1:c.1341T>C (GP1BA) ENSP00000484439.1:p.Thr447=
NM_000173.6:c.1419T>C (GP1BA) NP_000164.5:p.Thr473=
NM_000173.7:c.1419T>C (GP1BA) MANE Select NP_000164.5:p.Thr473=
Search 100 bp 5'
Search 100 bp 3'