Canonical Allele Identifier: CA7453018
Community Standard Title: NM_001252024.2(TRPM1):c.279+147T>G
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31069884A>C , CM000677.2:g.31069884A>C GRCh38
NC_000015.9:g.31362087A>C , CM000677.1:g.31362087A>C GRCh37
NC_000015.8:g.29149379A>C NCBI36
NG_016453.1:g.36838T>G
NG_016453.2:g.96390T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.279+147T>G MANE Select NP_001238953.1:n.279+147T>G
ENST00000256552.11:c.279+147T>G MANE Select ENSP00000256552.7:n.279+147T>G
NM_001252020.1:c.330+147T>G NP_001238949.1:n.330+147T>G
NM_001252020.2:c.330+147T>G NP_001238949.1:n.330+147T>G
NM_001252024.1:c.279+147T>G NP_001238953.1:n.279+147T>G
NM_001252030.1:c.360T>G NP_001238959.1:p.Tyr120Ter
NM_001252030.2:c.360T>G NP_001238959.1:p.Tyr120Ter
NM_002420.5:c.213+147T>G NP_002411.3:n.213+147T>G
NM_002420.6:c.213+147T>G NP_002411.3:n.213+147T>G
ENST00000256552.10:c.279+147T>G ENSP00000256552.6:n.279+147T>G
ENST00000397795.6:c.213+147T>G ENSP00000380897.2:n.213+147T>G
ENST00000397795.7:c.213+147T>G ENSP00000380897.2:n.213+147T>G
ENST00000542188.5:c.330+147T>G ENSP00000437849.1:n.330+147T>G
ENST00000558445.5:c.213+147T>G ENSP00000452946.1:n.213+147T>G
ENST00000558445.6:c.330+147T>G ENSP00000452946.2:n.330+147T>G
ENST00000559177.5:c.213+147T>G ENSP00000453477.1:n.213+147T>G
ENST00000559177.6:c.330+147T>G ENSP00000453477.2:n.330+147T>G
ENST00000559179.1:c.360T>G ENSP00000453851.1:p.Tyr120Ter
ENST00000559179.2:c.360T>G ENSP00000453851.1:p.Tyr120Ter
ENST00000560658.5:c.213+147T>G ENSP00000454077.1:n.213+147T>G
ENST00000711434.1:c.213+147T>G ENSP00000518752.1:n.213+147T>G