Canonical Allele Identifier: CA7452071
Community Standard Title: NM_001252024.2(TRPM1):c.2778C>T (p.Leu926=)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31032863G>A , CM000677.2:g.31032863G>A GRCh38
NC_000015.9:g.31325066G>A , CM000677.1:g.31325066G>A GRCh37
NC_000015.8:g.29112358G>A NCBI36
NG_016453.1:g.73859C>T
NG_016453.2:g.133411C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.2778C>T MANE Select NP_001238953.1:p.Leu926=
ENST00000256552.11:c.2778C>T MANE Select ENSP00000256552.7:p.Leu926=
NM_001252020.1:c.2829C>T NP_001238949.1:p.Leu943=
NM_001252020.2:c.2829C>T NP_001238949.1:p.Leu943=
NM_001252024.1:c.2778C>T NP_001238953.1:p.Leu926=
NM_002420.5:c.2712C>T NP_002411.3:p.Leu904=
NM_002420.6:c.2712C>T NP_002411.3:p.Leu904=
ENST00000256552.10:c.2778C>T ENSP00000256552.6:p.Leu926=
ENST00000397795.6:c.2712C>T ENSP00000380897.2:p.Leu904=
ENST00000397795.7:c.2712C>T ENSP00000380897.2:p.Leu904=
ENST00000542188.5:c.2829C>T ENSP00000437849.1:p.Leu943=
ENST00000557948.1:n.153C>T
ENST00000558445.5:c.2712C>T ENSP00000452946.1:p.Leu904=
ENST00000558445.6:c.2829C>T ENSP00000452946.2:p.Leu943=
ENST00000558768.5:c.2481C>T ENSP00000453119.2:p.Leu827=
ENST00000559177.5:c.428-4387C>T ENSP00000453477.1:n.428-4387C>T
ENST00000559177.6:c.545-4387C>T ENSP00000453477.2:n.545-4387C>T
ENST00000560801.5:c.2529C>T ENSP00000453644.2:n.2529C>T
ENST00000711434.1:c.2712C>T ENSP00000518752.1:p.Leu904=
XR_001751769.1:n.279-2890G>A
XR_932055.1:n.261-2707G>A
XR_932056.1:n.90-2707G>A
XR_932057.1:n.261-2707G>A
XR_932058.1:n.89-2890G>A