Canonical Allele Identifier: CA7451988
Community Standard Title: NM_001252024.2(TRPM1):c.3127+1G>A
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31030982C>T , CM000677.2:g.31030982C>T GRCh38
NC_000015.9:g.31323185C>T , CM000677.1:g.31323185C>T GRCh37
NC_000015.8:g.29110477C>T NCBI36
NG_016453.1:g.75740G>A
NG_016453.2:g.135292G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.3127+1G>A MANE Select NP_001238953.1:n.3127+1G>A
ENST00000256552.11:c.3127+1G>A MANE Select ENSP00000256552.7:n.3127+1G>A
NM_001252020.1:c.3178+1G>A NP_001238949.1:n.3178+1G>A
NM_001252020.2:c.3178+1G>A NP_001238949.1:n.3178+1G>A
NM_001252024.1:c.3127+1G>A NP_001238953.1:n.3127+1G>A
NM_002420.5:c.3061+1G>A NP_002411.3:n.3061+1G>A
NM_002420.6:c.3061+1G>A NP_002411.3:n.3061+1G>A
ENST00000256552.10:c.3127+1G>A ENSP00000256552.6:n.3127+1G>A
ENST00000397795.6:c.3061+1G>A ENSP00000380897.2:n.3061+1G>A
ENST00000397795.7:c.3061+1G>A ENSP00000380897.2:n.3061+1G>A
ENST00000542188.5:c.3178+1G>A ENSP00000437849.1:n.3178+1G>A
ENST00000557948.1:n.502+1G>A
ENST00000558212.5:n.350+1G>A
ENST00000558445.5:c.3061+1G>A ENSP00000452946.1:n.3061+1G>A
ENST00000558445.6:c.3178+1G>A ENSP00000452946.2:n.3178+1G>A
ENST00000558768.5:c.2830+1G>A ENSP00000453119.2:n.2830+1G>A
ENST00000559177.5:c.428-2506G>A ENSP00000453477.1:n.428-2506G>A
ENST00000559177.6:c.545-2506G>A ENSP00000453477.2:n.545-2506G>A
ENST00000560801.5:c.2704-1591G>A ENSP00000453644.2:n.2704-1591G>A
ENST00000711434.1:c.3062G>A ENSP00000518752.1:p.Arg1021His
XR_001751769.1:n.278+3871C>T
XR_932055.1:n.260+3871C>T
XR_932056.1:n.89+3871C>T
XR_932057.1:n.260+3871C>T
XR_932058.1:n.88+3871C>T