Canonical Allele Identifier: CA7452053
Community Standard Title: NM_001252024.2(TRPM1):c.2877C>T (p.Phe959=)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31032764G>A , CM000677.2:g.31032764G>A GRCh38
NC_000015.9:g.31324967G>A , CM000677.1:g.31324967G>A GRCh37
NC_000015.8:g.29112259G>A NCBI36
NG_016453.1:g.73958C>T
NG_016453.2:g.133510C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.2877C>T MANE Select NP_001238953.1:p.Phe959=
ENST00000256552.11:c.2877C>T MANE Select ENSP00000256552.7:p.Phe959=
NM_001252020.1:c.2928C>T NP_001238949.1:p.Phe976=
NM_001252020.2:c.2928C>T NP_001238949.1:p.Phe976=
NM_001252024.1:c.2877C>T NP_001238953.1:p.Phe959=
NM_002420.5:c.2811C>T NP_002411.3:p.Phe937=
NM_002420.6:c.2811C>T NP_002411.3:p.Phe937=
ENST00000256552.10:c.2877C>T ENSP00000256552.6:p.Phe959=
ENST00000397795.6:c.2811C>T ENSP00000380897.2:p.Phe937=
ENST00000397795.7:c.2811C>T ENSP00000380897.2:p.Phe937=
ENST00000542188.5:c.2928C>T ENSP00000437849.1:p.Phe976=
ENST00000557948.1:n.252C>T
ENST00000558445.5:c.2811C>T ENSP00000452946.1:p.Phe937=
ENST00000558445.6:c.2928C>T ENSP00000452946.2:p.Phe976=
ENST00000558768.5:c.2580C>T ENSP00000453119.2:p.Phe860=
ENST00000559177.5:c.428-4288C>T ENSP00000453477.1:n.428-4288C>T
ENST00000559177.6:c.545-4288C>T ENSP00000453477.2:n.545-4288C>T
ENST00000560801.5:c.2628C>T ENSP00000453644.2:n.2628C>T
ENST00000711434.1:c.2811C>T ENSP00000518752.1:p.Phe937=
XR_001751769.1:n.279-2989G>A
XR_932055.1:n.261-2806G>A
XR_932056.1:n.90-2806G>A
XR_932057.1:n.261-2806G>A
XR_932058.1:n.89-2989G>A