Canonical Allele Identifier: CA118065
Community Standard Title: NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31028454A>T , CM000677.2:g.31028454A>T GRCh38
NC_000015.9:g.31320657A>T , CM000677.1:g.31320657A>T GRCh37
NC_000015.8:g.29107949A>T NCBI36
NG_016453.1:g.78268T>A
NG_016453.2:g.137820T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.3171T>A MANE Select NP_001238953.1:p.Tyr1057Ter
ENST00000256552.11:c.3171T>A MANE Select ENSP00000256552.7:p.Tyr1057Ter
NM_001252020.1:c.3222T>A NP_001238949.1:p.Tyr1074Ter
NM_001252020.2:c.3222T>A NP_001238949.1:p.Tyr1074Ter
NM_001252024.1:c.3171T>A NP_001238953.1:p.Tyr1057Ter
NM_002420.5:c.3105T>A NP_002411.3:p.Tyr1035Ter
NM_002420.6:c.3105T>A NP_002411.3:p.Tyr1035Ter
ENST00000256552.10:c.3171T>A ENSP00000256552.6:p.Tyr1057Ter
ENST00000397795.6:c.3105T>A ENSP00000380897.2:p.Tyr1035Ter
ENST00000397795.7:c.3105T>A ENSP00000380897.2:p.Tyr1035Ter
ENST00000542188.5:c.3222T>A ENSP00000437849.1:p.Tyr1074Ter
ENST00000557948.1:n.546T>A
ENST00000558212.5:n.394T>A
ENST00000558445.5:c.3105T>A ENSP00000452946.1:p.Tyr1035Ter
ENST00000558445.6:c.3222T>A ENSP00000452946.2:p.Tyr1074Ter
ENST00000558768.5:c.2874T>A ENSP00000453119.2:p.Tyr958Ter
ENST00000559177.5:c.450T>A ENSP00000453477.1:p.Tyr150Ter
ENST00000559177.6:c.567T>A ENSP00000453477.2:p.Tyr189Ter
ENST00000560801.5:c.2747T>A ENSP00000453644.2:n.2747T>A
ENST00000711434.1:c.3123T>A ENSP00000518752.1:p.Tyr1041Ter
XR_001751769.1:n.278+1343A>T
XR_932055.1:n.260+1343A>T
XR_932056.1:n.89+1343A>T
XR_932057.1:n.260+1343A>T
XR_932058.1:n.88+1343A>T