Canonical Allele Identifier: CA2803881393
Gene: CHP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.41271667G>A , CM000677.2:g.41271667G>A GRCh38
NC_000015.9:g.41563865G>A , CM000677.1:g.41563865G>A GRCh37
NC_000015.8:g.39351157G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334660.10:c.411+1049G>A MANE Select ENSP00000335632.5:n.411+1049G>A
ENST00000334660.9:c.411+1049G>A ENSP00000335632.5:n.411+1049G>A
ENST00000392151.6:c.350-7100G>A ENSP00000440490.1:n.350-7100G>A
ENST00000558351.5:n.543+1049G>A
ENST00000560397.5:c.411+1049G>A ENSP00000454007.1:n.411+1049G>A
ENST00000560411.5:c.*176+1049G>A ENSP00000453375.1:n.*176+1049G>A
ENST00000560633.1:n.399-513G>A
ENST00000560784.5:c.*110+1049G>A ENSP00000452772.1:n.*110+1049G>A
ENST00000560965.1:c.272-513G>A
NM_007236.4:c.411+1049G>A NP_009167.1:n.411+1049G>A
NM_007236.5:c.411+1049G>A MANE Select NP_009167.1:n.411+1049G>A
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