Canonical Allele Identifier: CA2172180584

Gene: CHP1

Linked Data

• dbSNP Id: rs2047490383

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41271659T>A , CM000677.2:g.41271659T>A	GRCh38
NC_000015.9:g.41563857T>A , CM000677.1:g.41563857T>A	GRCh37
NC_000015.8:g.39351149T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334660.10:c.411+1041T>A MANE Select	ENSP00000335632.5:n.411+1041T>A
ENST00000334660.9:c.411+1041T>A	ENSP00000335632.5:n.411+1041T>A
ENST00000392151.6:c.350-7108T>A	ENSP00000440490.1:n.350-7108T>A
ENST00000558351.5:n.543+1041T>A
ENST00000560397.5:c.411+1041T>A	ENSP00000454007.1:n.411+1041T>A
ENST00000560411.5:c.*176+1041T>A	ENSP00000453375.1:n.*176+1041T>A
ENST00000560633.1:n.399-521T>A
ENST00000560784.5:c.*110+1041T>A	ENSP00000452772.1:n.*110+1041T>A
ENST00000560965.1:c.272-521T>A
NM_007236.4:c.411+1041T>A	NP_009167.1:n.411+1041T>A
NM_007236.5:c.411+1041T>A MANE Select	NP_009167.1:n.411+1041T>A