ClinGen Allele Registry
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Canonical Allele Identifier:
CA7453174
Gene: TRPM1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.31160944G>A , CM000677.2:g.31160944G>A
GRCh38
NC_000015.9:g.31453147G>A , CM000677.1:g.31453147G>A
GRCh37
NC_000015.8:g.29240439G>A
NCBI36
NG_016453.2:g.5330C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000558445.6:c.16C>T
ENSP00000452946.2:p.Arg6Trp
ENST00000559177.6:c.16C>T
ENSP00000453477.2:p.Arg6Trp
ENST00000542188.5:c.16C>T
ENSP00000437849.1:p.Arg6Trp
ENST00000558445.5:c.-102C>T
ENSP00000452946.1:n.-102C>T
ENST00000559177.5:c.-102C>T
ENSP00000453477.1:n.-102C>T
NM_001252020.1:c.16C>T
NP_001238949.1:p.Arg6Trp
NM_001252020.2:c.16C>T
NP_001238949.1:p.Arg6Trp
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