Canonical Allele Identifier: CA497677664
Gene: GP1BA HGNC NCBI
CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4836478T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933183T>G , CM000679.2:g.4933183T>G GRCh38
NC_000017.10:g.4836478T>G , CM000679.1:g.4836478T>G GRCh37
NC_000017.9:g.4777258T>G NCBI36
NG_008767.2:g.5889T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.579T>G (GP1BA) MANE Select ENSP00000329380.5:p.Leu193=
ENST00000649830.1:c.-888+1159A>C (CHRNE) ENSP00000496907.1:n.-888+1159A>C
ENST00000329125.5:c.579T>G (GP1BA) ENSP00000329380.5:p.Leu193=
ENST00000611961.1:c.579T>G (GP1BA) ENSP00000484439.1:p.Leu193=
NM_000173.6:c.579T>G (GP1BA) NP_000164.5:p.Leu193=
NM_000173.7:c.579T>G (GP1BA) MANE Select NP_000164.5:p.Leu193=
Search 100 bp 5'
Search 100 bp 3'