Canonical Allele Identifier: CA7452337
Community Standard Title: NM_001252024.2(TRPM1):c.2087+2T>C
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31041949A>G , CM000677.2:g.31041949A>G GRCh38
NC_000015.9:g.31334152A>G , CM000677.1:g.31334152A>G GRCh37
NC_000015.8:g.29121444A>G NCBI36
NG_016453.1:g.64773T>C
NG_016453.2:g.124325T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.2087+2T>C MANE Select NP_001238953.1:n.2087+2T>C
ENST00000256552.11:c.2087+2T>C MANE Select ENSP00000256552.7:n.2087+2T>C
NM_001252020.1:c.2138+2T>C NP_001238949.1:n.2138+2T>C
NM_001252020.2:c.2138+2T>C NP_001238949.1:n.2138+2T>C
NM_001252024.1:c.2087+2T>C NP_001238953.1:n.2087+2T>C
NM_002420.5:c.2021+2T>C NP_002411.3:n.2021+2T>C
NM_002420.6:c.2021+2T>C NP_002411.3:n.2021+2T>C
ENST00000256552.10:c.2087+2T>C ENSP00000256552.6:n.2087+2T>C
ENST00000397795.6:c.2021+2T>C ENSP00000380897.2:n.2021+2T>C
ENST00000397795.7:c.2021+2T>C ENSP00000380897.2:n.2021+2T>C
ENST00000542188.5:c.2138+2T>C ENSP00000437849.1:n.2138+2T>C
ENST00000558445.5:c.2021+2T>C ENSP00000452946.1:n.2021+2T>C
ENST00000558445.6:c.2138+2T>C ENSP00000452946.2:n.2138+2T>C
ENST00000558768.5:c.1790+2T>C ENSP00000453119.2:n.1790+2T>C
ENST00000559177.5:c.428-13473T>C ENSP00000453477.1:n.428-13473T>C
ENST00000559177.6:c.545-13473T>C ENSP00000453477.2:n.545-13473T>C
ENST00000560801.5:c.1838+2T>C ENSP00000453644.2:n.1838+2T>C
ENST00000711434.1:c.2021+2T>C ENSP00000518752.1:n.2021+2T>C