Canonical Allele Identifier: CA391537192
Gene: TRPM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31070114C>G , CM000677.2:g.31070114C>G GRCh38
NC_000015.9:g.31362317C>G , CM000677.1:g.31362317C>G GRCh37
NC_000015.8:g.29149609C>G NCBI36
NG_016453.1:g.36608G>C
NG_016453.2:g.96160G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000711434.1:c.130G>C ENSP00000518752.1:p.Val44Leu
ENST00000397795.7:c.130G>C ENSP00000380897.2:p.Val44Leu
ENST00000558445.6:c.247G>C ENSP00000452946.2:p.Val83Leu
ENST00000559177.6:c.247G>C ENSP00000453477.2:p.Val83Leu
ENST00000559179.2:c.130G>C ENSP00000453851.1:p.Val44Leu
ENST00000256552.11:c.196G>C MANE Select ENSP00000256552.7:p.Val66Leu
ENST00000256552.10:c.196G>C ENSP00000256552.6:p.Val66Leu
ENST00000397795.6:c.130G>C ENSP00000380897.2:p.Val44Leu
ENST00000542188.5:c.247G>C ENSP00000437849.1:p.Val83Leu
ENST00000558445.5:c.130G>C ENSP00000452946.1:p.Val44Leu
ENST00000559177.5:c.130G>C ENSP00000453477.1:p.Val44Leu
ENST00000559179.1:c.130G>C ENSP00000453851.1:p.Val44Leu
ENST00000560658.5:c.130G>C ENSP00000454077.1:p.Val44Leu
NM_001252020.1:c.247G>C NP_001238949.1:p.Val83Leu
NM_001252024.1:c.196G>C NP_001238953.1:p.Val66Leu
NM_001252030.1:c.130G>C NP_001238959.1:p.Val44Leu
NM_002420.5:c.130G>C NP_002411.3:p.Val44Leu
NM_001252024.2:c.196G>C MANE Select NP_001238953.1:p.Val66Leu
NM_001252030.2:c.130G>C NP_001238959.1:p.Val44Leu
NM_002420.6:c.130G>C NP_002411.3:p.Val44Leu
NM_001252020.2:c.247G>C NP_001238949.1:p.Val83Leu