Canonical Allele Identifier: CA267502145
Gene: TRPM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 971341
ClinVar RCV Id: RCV001247105
dbSNP Id: rs761314000

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31070189G>T , CM000677.2:g.31070189G>T GRCh38
NC_000015.9:g.31362392G>T , CM000677.1:g.31362392G>T GRCh37
NC_000015.8:g.29149684G>T NCBI36
NG_016453.1:g.36533C>A
NG_016453.2:g.96085C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000711434.1:c.55C>A ENSP00000518752.1:p.Pro19Thr
ENST00000397795.7:c.55C>A ENSP00000380897.2:p.Pro19Thr
ENST00000558445.6:c.172C>A ENSP00000452946.2:p.Pro58Thr
ENST00000559177.6:c.172C>A ENSP00000453477.2:p.Pro58Thr
ENST00000559179.2:c.55C>A ENSP00000453851.1:p.Pro19Thr
ENST00000256552.11:c.121C>A MANE Select ENSP00000256552.7:p.Pro41Thr
ENST00000256552.10:c.121C>A ENSP00000256552.6:p.Pro41Thr
ENST00000397795.6:c.55C>A ENSP00000380897.2:p.Pro19Thr
ENST00000542188.5:c.172C>A ENSP00000437849.1:p.Pro58Thr
ENST00000558445.5:c.55C>A ENSP00000452946.1:p.Pro19Thr
ENST00000559177.5:c.55C>A ENSP00000453477.1:p.Pro19Thr
ENST00000559179.1:c.55C>A ENSP00000453851.1:p.Pro19Thr
ENST00000560658.5:c.55C>A ENSP00000454077.1:p.Pro19Thr
NM_001252020.1:c.172C>A NP_001238949.1:p.Pro58Thr
NM_001252024.1:c.121C>A NP_001238953.1:p.Pro41Thr
NM_001252030.1:c.55C>A NP_001238959.1:p.Pro19Thr
NM_002420.5:c.55C>A NP_002411.3:p.Pro19Thr
NM_001252024.2:c.121C>A MANE Select NP_001238953.1:p.Pro41Thr
NM_001252030.2:c.55C>A NP_001238959.1:p.Pro19Thr
NM_002420.6:c.55C>A NP_002411.3:p.Pro19Thr
NM_001252020.2:c.172C>A NP_001238949.1:p.Pro58Thr