Canonical Allele Identifier: CA397321947

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934060T>G , CM000679.2:g.4934060T>G GRCh38
NC_000017.10:g.4837355T>G , CM000679.1:g.4837355T>G GRCh37
NC_000017.9:g.4778096T>G NCBI36
NG_008767.2:g.6766T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1456T>G (GP1BA) MANE Select ENSP00000329380.5:p.Ser486Ala
ENST00000649830.1:c.-888+282A>C (CHRNE) ENSP00000496907.1:n.-888+282A>C
ENST00000329125.5:c.1456T>G (GP1BA) ENSP00000329380.5:p.Ser486Ala
ENST00000611961.1:c.1378T>G (GP1BA) ENSP00000484439.1:p.Ser460Ala
NM_000173.6:c.1456T>G (GP1BA) NP_000164.5:p.Ser486Ala
NM_000173.7:c.1456T>G (GP1BA) MANE Select NP_000164.5:p.Ser486Ala