Canonical Allele Identifier: CA497678192
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4933948-C-A
MyVariant Identifiers: chr17:g.4837243C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933948C>A , CM000679.2:g.4933948C>A GRCh38
NC_000017.10:g.4837243C>A , CM000679.1:g.4837243C>A GRCh37
NC_000017.9:g.4777984C>A NCBI36
NG_008767.2:g.6654C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1344C>A (GP1BA) MANE Select ENSP00000329380.5:p.Thr448=
ENST00000649830.1:c.-888+394G>T (CHRNE) ENSP00000496907.1:n.-888+394G>T
ENST00000329125.5:c.1344C>A (GP1BA) ENSP00000329380.5:p.Thr448=
ENST00000611961.1:c.1273-7C>A (GP1BA) ENSP00000484439.1:n.1273-7C>A
NM_000173.6:c.1344C>A (GP1BA) NP_000164.5:p.Thr448=
NM_000173.7:c.1344C>A (GP1BA) MANE Select NP_000164.5:p.Thr448=
Search 100 bp 5'
Search 100 bp 3'