Canonical Allele Identifier: CA397321708
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1279275803
gnomAD v2: 17-4837280-A-C
gnomAD v4: 17-4933985-A-C
MyVariant Identifiers: chr17:g.4837280A>C (hg19) chr17:g.4933985A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933985A>C , CM000679.2:g.4933985A>C GRCh38
NC_000017.10:g.4837280A>C , CM000679.1:g.4837280A>C GRCh37
NC_000017.9:g.4778021A>C NCBI36
NG_008767.2:g.6691A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1381A>C (GP1BA) MANE Select ENSP00000329380.5:p.Ser461Arg
ENST00000649830.1:c.-888+357T>G (CHRNE) ENSP00000496907.1:n.-888+357T>G
ENST00000329125.5:c.1381A>C (GP1BA) ENSP00000329380.5:p.Ser461Arg
ENST00000611961.1:c.1303A>C (GP1BA) ENSP00000484439.1:p.Ser435Arg
NM_000173.6:c.1381A>C (GP1BA) NP_000164.5:p.Ser461Arg
NM_000173.7:c.1381A>C (GP1BA) MANE Select NP_000164.5:p.Ser461Arg
Search 100 bp 5'
Search 100 bp 3'