Canonical Allele Identifier: CA7452374
Gene: TRPM1 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31042159C>T , CM000677.2:g.31042159C>T GRCh38
NC_000015.9:g.31334362C>T , CM000677.1:g.31334362C>T GRCh37
NC_000015.8:g.29121654C>T NCBI36
NG_016453.1:g.64563G>A
NG_016453.2:g.124115G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000711434.1:c.1813G>A ENSP00000518752.1:p.Val605Met
ENST00000397795.7:c.1813G>A ENSP00000380897.2:p.Val605Met
ENST00000558445.6:c.1930G>A ENSP00000452946.2:p.Val644Met
ENST00000559177.6:c.545-13683G>A ENSP00000453477.2:n.545-13683G>A
ENST00000256552.11:c.1879G>A MANE Select ENSP00000256552.7:p.Val627Met
ENST00000256552.10:c.1879G>A ENSP00000256552.6:p.Val627Met
ENST00000397795.6:c.1813G>A ENSP00000380897.2:p.Val605Met
ENST00000542188.5:c.1930G>A ENSP00000437849.1:p.Val644Met
ENST00000558445.5:c.1813G>A ENSP00000452946.1:p.Val605Met
ENST00000558768.5:c.1582G>A ENSP00000453119.2:p.Val528Met
ENST00000559177.5:c.428-13683G>A ENSP00000453477.1:n.428-13683G>A
ENST00000560801.5:c.1630G>A ENSP00000453644.2:n.1630G>A
NM_001252020.1:c.1930G>A NP_001238949.1:p.Val644Met
NM_001252024.1:c.1879G>A NP_001238953.1:p.Val627Met
NM_002420.5:c.1813G>A NP_002411.3:p.Val605Met
NM_001252024.2:c.1879G>A MANE Select NP_001238953.1:p.Val627Met
NM_002420.6:c.1813G>A NP_002411.3:p.Val605Met
NM_001252020.2:c.1930G>A NP_001238949.1:p.Val644Met