Canonical Allele Identifier: CA7452316
Community Standard Title: NM_001252024.2(TRPM1):c.2088-8C>T
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31040354G>A , CM000677.2:g.31040354G>A GRCh38
NC_000015.9:g.31332557G>A , CM000677.1:g.31332557G>A GRCh37
NC_000015.8:g.29119849G>A NCBI36
NG_016453.1:g.66368C>T
NG_016453.2:g.125920C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.2088-8C>T MANE Select NP_001238953.1:n.2088-8C>T
ENST00000256552.11:c.2088-8C>T MANE Select ENSP00000256552.7:n.2088-8C>T
NM_001252020.1:c.2139-8C>T NP_001238949.1:n.2139-8C>T
NM_001252020.2:c.2139-8C>T NP_001238949.1:n.2139-8C>T
NM_001252024.1:c.2088-8C>T NP_001238953.1:n.2088-8C>T
NM_002420.5:c.2022-8C>T NP_002411.3:n.2022-8C>T
NM_002420.6:c.2022-8C>T NP_002411.3:n.2022-8C>T
ENST00000256552.10:c.2088-8C>T ENSP00000256552.6:n.2088-8C>T
ENST00000397795.6:c.2022-8C>T ENSP00000380897.2:n.2022-8C>T
ENST00000397795.7:c.2022-8C>T ENSP00000380897.2:n.2022-8C>T
ENST00000542188.5:c.2139-8C>T ENSP00000437849.1:n.2139-8C>T
ENST00000558445.5:c.2022-8C>T ENSP00000452946.1:n.2022-8C>T
ENST00000558445.6:c.2139-8C>T ENSP00000452946.2:n.2139-8C>T
ENST00000558768.5:c.1791-8C>T ENSP00000453119.2:n.1791-8C>T
ENST00000559177.5:c.428-11878C>T ENSP00000453477.1:n.428-11878C>T
ENST00000559177.6:c.545-11878C>T ENSP00000453477.2:n.545-11878C>T
ENST00000560801.5:c.1839-8C>T ENSP00000453644.2:n.1839-8C>T
ENST00000711434.1:c.2022-8C>T ENSP00000518752.1:n.2022-8C>T