Canonical Allele Identifier: CA397320649

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933854C>G , CM000679.2:g.4933854C>G GRCh38
NC_000017.10:g.4837149C>G , CM000679.1:g.4837149C>G GRCh37
NC_000017.9:g.4777929C>G NCBI36
NG_008767.2:g.6560C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1250C>G (GP1BA) MANE Select ENSP00000329380.5:p.Pro417Arg
ENST00000649830.1:c.-888+488G>C (CHRNE) ENSP00000496907.1:n.-888+488G>C
ENST00000329125.5:c.1250C>G (GP1BA) ENSP00000329380.5:p.Pro417Arg
ENST00000611961.1:c.1250C>G (GP1BA) ENSP00000484439.1:p.Pro417Arg
NM_000173.6:c.1250C>G (GP1BA) NP_000164.5:p.Pro417Arg
NM_000173.7:c.1250C>G (GP1BA) MANE Select NP_000164.5:p.Pro417Arg