Canonical Allele Identifier: CA7452369
Community Standard Title: NM_001252024.2(TRPM1):c.1890C>T (p.Phe630=)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31042148G>A , CM000677.2:g.31042148G>A GRCh38
NC_000015.9:g.31334351G>A , CM000677.1:g.31334351G>A GRCh37
NC_000015.8:g.29121643G>A NCBI36
NG_016453.1:g.64574C>T
NG_016453.2:g.124126C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.1890C>T MANE Select NP_001238953.1:p.Phe630=
ENST00000256552.11:c.1890C>T MANE Select ENSP00000256552.7:p.Phe630=
NM_001252020.1:c.1941C>T NP_001238949.1:p.Phe647=
NM_001252020.2:c.1941C>T NP_001238949.1:p.Phe647=
NM_001252024.1:c.1890C>T NP_001238953.1:p.Phe630=
NM_002420.5:c.1824C>T NP_002411.3:p.Phe608=
NM_002420.6:c.1824C>T NP_002411.3:p.Phe608=
ENST00000256552.10:c.1890C>T ENSP00000256552.6:p.Phe630=
ENST00000397795.6:c.1824C>T ENSP00000380897.2:p.Phe608=
ENST00000397795.7:c.1824C>T ENSP00000380897.2:p.Phe608=
ENST00000542188.5:c.1941C>T ENSP00000437849.1:p.Phe647=
ENST00000558445.5:c.1824C>T ENSP00000452946.1:p.Phe608=
ENST00000558445.6:c.1941C>T ENSP00000452946.2:p.Phe647=
ENST00000558768.5:c.1593C>T ENSP00000453119.2:p.Phe531=
ENST00000559177.5:c.428-13672C>T ENSP00000453477.1:n.428-13672C>T
ENST00000559177.6:c.545-13672C>T ENSP00000453477.2:n.545-13672C>T
ENST00000560801.5:c.1641C>T ENSP00000453644.2:n.1641C>T
ENST00000711434.1:c.1824C>T ENSP00000518752.1:p.Phe608=