Canonical Allele Identifier: CA267515085
Community Standard Title: NM_001252024.2(TRPM1):c.3148+118G>A
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31029253C>T , CM000677.2:g.31029253C>T GRCh38
NC_000015.9:g.31321456C>T , CM000677.1:g.31321456C>T GRCh37
NC_000015.8:g.29108748C>T NCBI36
NG_016453.1:g.77469G>A
NG_016453.2:g.137021G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.3148+118G>A MANE Select NP_001238953.1:n.3148+118G>A
ENST00000256552.11:c.3148+118G>A MANE Select ENSP00000256552.7:n.3148+118G>A
NM_001252020.1:c.3199+118G>A NP_001238949.1:n.3199+118G>A
NM_001252020.2:c.3199+118G>A NP_001238949.1:n.3199+118G>A
NM_001252024.1:c.3148+118G>A NP_001238953.1:n.3148+118G>A
NM_002420.5:c.3082+118G>A NP_002411.3:n.3082+118G>A
NM_002420.6:c.3082+118G>A NP_002411.3:n.3082+118G>A
ENST00000256552.10:c.3148+118G>A ENSP00000256552.6:n.3148+118G>A
ENST00000397795.6:c.3082+118G>A ENSP00000380897.2:n.3082+118G>A
ENST00000397795.7:c.3082+118G>A ENSP00000380897.2:n.3082+118G>A
ENST00000542188.5:c.3199+118G>A ENSP00000437849.1:n.3199+118G>A
ENST00000557948.1:n.523+118G>A
ENST00000558212.5:n.371+118G>A
ENST00000558445.5:c.3082+118G>A ENSP00000452946.1:n.3082+118G>A
ENST00000558445.6:c.3199+118G>A ENSP00000452946.2:n.3199+118G>A
ENST00000558768.5:c.2851+118G>A ENSP00000453119.2:n.2851+118G>A
ENST00000559177.5:c.428-777G>A ENSP00000453477.1:n.428-777G>A
ENST00000559177.6:c.545-777G>A ENSP00000453477.2:n.545-777G>A
ENST00000560801.5:c.2724+118G>A ENSP00000453644.2:n.2724+118G>A
ENST00000711434.1:c.3100+118G>A ENSP00000518752.1:n.3100+118G>A
XR_001751769.1:n.278+2142C>T
XR_932055.1:n.260+2142C>T
XR_932056.1:n.89+2142C>T
XR_932057.1:n.260+2142C>T
XR_932058.1:n.88+2142C>T