Canonical Allele Identifier: CA391517070
Community Standard Title: NM_001252024.2(TRPM1):c.1460T>A (p.Met487Lys)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31049487A>T , CM000677.2:g.31049487A>T GRCh38
NC_000015.9:g.31341690A>T , CM000677.1:g.31341690A>T GRCh37
NC_000015.8:g.29128982A>T NCBI36
NG_016453.1:g.57235T>A
NG_016453.2:g.116787T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.1460T>A MANE Select NP_001238953.1:p.Met487Lys
ENST00000256552.11:c.1460T>A MANE Select ENSP00000256552.7:p.Met487Lys
NM_001252020.1:c.1511T>A NP_001238949.1:p.Met504Lys
NM_001252020.2:c.1511T>A NP_001238949.1:p.Met504Lys
NM_001252024.1:c.1460T>A NP_001238953.1:p.Met487Lys
NM_002420.5:c.1394T>A NP_002411.3:p.Met465Lys
NM_002420.6:c.1394T>A NP_002411.3:p.Met465Lys
ENST00000256552.10:c.1460T>A ENSP00000256552.6:p.Met487Lys
ENST00000397795.6:c.1394T>A ENSP00000380897.2:p.Met465Lys
ENST00000397795.7:c.1394T>A ENSP00000380897.2:p.Met465Lys
ENST00000542188.5:c.1511T>A ENSP00000437849.1:p.Met504Lys
ENST00000558445.5:c.1394T>A ENSP00000452946.1:p.Met465Lys
ENST00000558445.6:c.1511T>A ENSP00000452946.2:p.Met504Lys
ENST00000558768.5:c.1163T>A ENSP00000453119.2:p.Met388Lys
ENST00000559177.5:c.427+18392T>A ENSP00000453477.1:n.427+18392T>A
ENST00000559177.6:c.544+18392T>A ENSP00000453477.2:n.544+18392T>A
ENST00000560801.5:c.1211T>A ENSP00000453644.2:n.1211T>A
ENST00000711434.1:c.1394T>A ENSP00000518752.1:p.Met465Lys