Canonical Allele Identifier: CA8315010
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1555549287
ExAC: 17:4837386 C / T
gnomAD v2: 17-4837386-C-T
gnomAD v4: 17-4934091-C-T
MyVariant Identifiers: chr17:g.4837386C>T (hg19) chr17:g.4837386_4837392delinsTTGAACT (hg19) chr17:g.4934091C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934091C>T , CM000679.2:g.4934091C>T GRCh38
NC_000017.10:g.4837386C>T , CM000679.1:g.4837386C>T GRCh37
NC_000017.9:g.4778127C>T NCBI36
NG_008767.2:g.6797C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1487C>T (GP1BA) MANE Select ENSP00000329380.5:p.Pro496Leu
ENST00000649830.1:c.-888+251G>A (CHRNE) ENSP00000496907.1:n.-888+251G>A
ENST00000329125.5:c.1487C>T (GP1BA) ENSP00000329380.5:p.Pro496Leu
ENST00000611961.1:c.1409C>T (GP1BA) ENSP00000484439.1:p.Pro470Leu
NM_000173.6:c.1487C>T (GP1BA) NP_000164.5:p.Pro496Leu
NM_000173.7:c.1487C>T (GP1BA) MANE Select NP_000164.5:p.Pro496Leu
Search 100 bp 5'
Search 100 bp 3'