Canonical Allele Identifier: CA7452962
Community Standard Title: NM_001252024.2(TRPM1):c.378T>C (p.His126=)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31067994A>G , CM000677.2:g.31067994A>G GRCh38
NC_000015.9:g.31360197A>G , CM000677.1:g.31360197A>G GRCh37
NC_000015.8:g.29147489A>G NCBI36
NG_016453.1:g.38728T>C
NG_016453.2:g.98280T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.378T>C MANE Select NP_001238953.1:p.His126=
ENST00000256552.11:c.378T>C MANE Select ENSP00000256552.7:p.His126=
NM_001252020.1:c.429T>C NP_001238949.1:p.His143=
NM_001252020.2:c.429T>C NP_001238949.1:p.His143=
NM_001252024.1:c.378T>C NP_001238953.1:p.His126=
NM_002420.5:c.312T>C NP_002411.3:p.His104=
NM_002420.6:c.312T>C NP_002411.3:p.His104=
ENST00000256552.10:c.378T>C ENSP00000256552.6:p.His126=
ENST00000397795.6:c.312T>C ENSP00000380897.2:p.His104=
ENST00000397795.7:c.312T>C ENSP00000380897.2:p.His104=
ENST00000542188.5:c.429T>C ENSP00000437849.1:p.His143=
ENST00000558445.5:c.312T>C ENSP00000452946.1:p.His104=
ENST00000558445.6:c.429T>C ENSP00000452946.2:p.His143=
ENST00000558768.5:c.99T>C ENSP00000453119.2:p.His33=
ENST00000559177.5:c.312T>C ENSP00000453477.1:p.His104=
ENST00000559177.6:c.429T>C ENSP00000453477.2:p.His143=
ENST00000560658.5:c.312T>C ENSP00000454077.1:p.His104=
ENST00000560801.5:c.99T>C ENSP00000453644.2:p.His33=
ENST00000711434.1:c.312T>C ENSP00000518752.1:p.His104=