Canonical Allele Identifier: CA397320673

Gene: GP1BA CHRNE

Linked Data

• dbSNP Id: rs1423190131
• gnomAD v2: 17-4837157-A-C
• gnomAD v4: 17-4933862-A-C
• COSMIC: COSM6415834
• MyVariant Identifiers: chr17:g.4837157A>C (hg19) ; chr17:g.4837157_4837177delinsCGCCCGACCACCCCGGAGCCC (hg19) ; chr17:g.4933862A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4933862A>C , CM000679.2:g.4933862A>C	GRCh38
NC_000017.10:g.4837157A>C , CM000679.1:g.4837157A>C	GRCh37
NC_000017.9:g.4777937A>C	NCBI36
NG_008767.2:g.6568A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329125.6:c.1258A>C (GP1BA) MANE Select	ENSP00000329380.5:p.Ser420Arg
ENST00000649830.1:c.-888+480T>G (CHRNE)	ENSP00000496907.1:n.-888+480T>G
ENST00000329125.5:c.1258A>C (GP1BA)	ENSP00000329380.5:p.Ser420Arg
ENST00000611961.1:c.1258A>C (GP1BA)	ENSP00000484439.1:p.Ser420Arg
NM_000173.6:c.1258A>C (GP1BA)	NP_000164.5:p.Ser420Arg
NM_000173.7:c.1258A>C (GP1BA) MANE Select	NP_000164.5:p.Ser420Arg