Canonical Allele Identifier: CA7452120
Community Standard Title: NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31035613C>T , CM000677.2:g.31035613C>T GRCh38
NC_000015.9:g.31327816C>T , CM000677.1:g.31327816C>T GRCh37
NC_000015.8:g.29115108C>T NCBI36
NG_016453.1:g.71109G>A
NG_016453.2:g.130661G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.2633G>A MANE Select NP_001238953.1:p.Trp878Ter
ENST00000256552.11:c.2633G>A MANE Select ENSP00000256552.7:p.Trp878Ter
NM_001252020.1:c.2684G>A NP_001238949.1:p.Trp895Ter
NM_001252020.2:c.2684G>A NP_001238949.1:p.Trp895Ter
NM_001252024.1:c.2633G>A NP_001238953.1:p.Trp878Ter
NM_002420.5:c.2567G>A NP_002411.3:p.Trp856Ter
NM_002420.6:c.2567G>A NP_002411.3:p.Trp856Ter
ENST00000256552.10:c.2633G>A ENSP00000256552.6:p.Trp878Ter
ENST00000397795.6:c.2567G>A ENSP00000380897.2:p.Trp856Ter
ENST00000397795.7:c.2567G>A ENSP00000380897.2:p.Trp856Ter
ENST00000542188.5:c.2684G>A ENSP00000437849.1:p.Trp895Ter
ENST00000558445.5:c.2567G>A ENSP00000452946.1:p.Trp856Ter
ENST00000558445.6:c.2684G>A ENSP00000452946.2:p.Trp895Ter
ENST00000558768.5:c.2336G>A ENSP00000453119.2:p.Trp779Ter
ENST00000559177.5:c.428-7137G>A ENSP00000453477.1:n.428-7137G>A
ENST00000559177.6:c.545-7137G>A ENSP00000453477.2:n.545-7137G>A
ENST00000560801.5:c.2384G>A ENSP00000453644.2:n.2384G>A
ENST00000711434.1:c.2567G>A ENSP00000518752.1:p.Trp856Ter
XR_001751769.1:n.279-140C>T
XR_932055.1:n.304C>T
XR_932056.1:n.133C>T
XR_932057.1:n.304C>T
XR_932058.1:n.89-140C>T