Canonical Allele Identifier: CA14096511
Community Standard Title: NM_001252024.2(TRPM1):c.1162+257T>C
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31061185A>G , CM000677.2:g.31061185A>G GRCh38
NC_000015.9:g.31353388A>G , CM000677.1:g.31353388A>G GRCh37
NC_000015.8:g.29140680A>G NCBI36
NG_016453.1:g.45537T>C
NG_016453.2:g.105089T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.1162+257T>C MANE Select NP_001238953.1:n.1162+257T>C
ENST00000256552.11:c.1162+257T>C MANE Select ENSP00000256552.7:n.1162+257T>C
NM_001252020.1:c.1213+257T>C NP_001238949.1:n.1213+257T>C
NM_001252020.2:c.1213+257T>C NP_001238949.1:n.1213+257T>C
NM_001252024.1:c.1162+257T>C NP_001238953.1:n.1162+257T>C
NM_002420.5:c.1096+257T>C NP_002411.3:n.1096+257T>C
NM_002420.6:c.1096+257T>C NP_002411.3:n.1096+257T>C
ENST00000256552.10:c.1162+257T>C ENSP00000256552.6:n.1162+257T>C
ENST00000397795.6:c.1096+257T>C ENSP00000380897.2:n.1096+257T>C
ENST00000397795.7:c.1096+257T>C ENSP00000380897.2:n.1096+257T>C
ENST00000542188.5:c.1213+257T>C ENSP00000437849.1:n.1213+257T>C
ENST00000558070.1:n.246+257T>C
ENST00000558445.5:c.1096+257T>C ENSP00000452946.1:n.1096+257T>C
ENST00000558445.6:c.1213+257T>C ENSP00000452946.2:n.1213+257T>C
ENST00000558768.5:c.865+257T>C ENSP00000453119.2:n.865+257T>C
ENST00000559177.5:c.427+6694T>C ENSP00000453477.1:n.427+6694T>C
ENST00000559177.6:c.544+6694T>C ENSP00000453477.2:n.544+6694T>C
ENST00000560658.5:c.*223+257T>C ENSP00000454077.1:n.*223+257T>C
ENST00000560801.5:c.913+257T>C ENSP00000453644.2:n.913+257T>C
ENST00000711434.1:c.1096+257T>C ENSP00000518752.1:n.1096+257T>C