Canonical Allele Identifier: CA397315197

Gene: GP1BA CHRNE

Linked Data

• COSMIC: COSM6446201
• MyVariant Identifiers: chr17:g.4836117T>G (hg19) ; chr17:g.4932822T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4932822T>G , CM000679.2:g.4932822T>G	GRCh38
NC_000017.10:g.4836117T>G , CM000679.1:g.4836117T>G	GRCh37
NC_000017.9:g.4776897T>G	NCBI36
NG_008767.2:g.5528T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000329125.6:c.218T>G (GP1BA) MANE Select	ENSP00000329380.5:p.Leu73Arg
ENST00000649830.1:c.-888+1520A>C (CHRNE)	ENSP00000496907.1:n.-888+1520A>C
ENST00000329125.5:c.218T>G (GP1BA)	ENSP00000329380.5:p.Leu73Arg
ENST00000611961.1:c.218T>G (GP1BA)	ENSP00000484439.1:p.Leu73Arg
NM_000173.6:c.218T>G (GP1BA)	NP_000164.5:p.Leu73Arg
NM_000173.7:c.218T>G (GP1BA) MANE Select	NP_000164.5:p.Leu73Arg