Canonical Allele Identifier: CA8314868

Gene: GP1BA CHRNE

Linked Data

• dbSNP Id: rs773710769
• ExAC: 17:4836859 A / C
• gnomAD v2: 17-4836859-A-C
• gnomAD v4: 17-4933564-A-C
• MyVariant Identifiers: chr17:g.4836859A>C (hg19) ; chr17:g.4933564A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933564A>C , CM000679.2:g.4933564A>C	GRCh38
NC_000017.10:g.4836859A>C , CM000679.1:g.4836859A>C	GRCh37
NC_000017.9:g.4777639A>C	NCBI36
NG_008767.2:g.6270A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.960A>C (GP1BA) MANE Select	ENSP00000329380.5:p.Thr320=
ENST00000649830.1:c.-888+778T>G (CHRNE)	ENSP00000496907.1:n.-888+778T>G
ENST00000329125.5:c.960A>C (GP1BA)	ENSP00000329380.5:p.Thr320=
ENST00000611961.1:c.960A>C (GP1BA)	ENSP00000484439.1:p.Thr320=
NM_000173.6:c.960A>C (GP1BA)	NP_000164.5:p.Thr320=
NM_000173.7:c.960A>C (GP1BA) MANE Select	NP_000164.5:p.Thr320=