Canonical Allele Identifier: CA391515691
Community Standard Title: NM_001252024.2(TRPM1):c.1623+1G>A
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31047888C>T , CM000677.2:g.31047888C>T GRCh38
NC_000015.9:g.31340091C>T , CM000677.1:g.31340091C>T GRCh37
NC_000015.8:g.29127383C>T NCBI36
NG_016453.1:g.58834G>A
NG_016453.2:g.118386G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.1623+1G>A MANE Select NP_001238953.1:n.1623+1G>A
ENST00000256552.11:c.1623+1G>A MANE Select ENSP00000256552.7:n.1623+1G>A
NM_001252020.1:c.1674+1G>A NP_001238949.1:n.1674+1G>A
NM_001252020.2:c.1674+1G>A NP_001238949.1:n.1674+1G>A
NM_001252024.1:c.1623+1G>A NP_001238953.1:n.1623+1G>A
NM_002420.5:c.1557+1G>A NP_002411.3:n.1557+1G>A
NM_002420.6:c.1557+1G>A NP_002411.3:n.1557+1G>A
ENST00000256552.10:c.1623+1G>A ENSP00000256552.6:n.1623+1G>A
ENST00000397795.6:c.1557+1G>A ENSP00000380897.2:n.1557+1G>A
ENST00000397795.7:c.1557+1G>A ENSP00000380897.2:n.1557+1G>A
ENST00000542188.5:c.1674+1G>A ENSP00000437849.1:n.1674+1G>A
ENST00000558445.5:c.1557+1G>A ENSP00000452946.1:n.1557+1G>A
ENST00000558445.6:c.1674+1G>A ENSP00000452946.2:n.1674+1G>A
ENST00000558768.5:c.1326+1G>A ENSP00000453119.2:n.1326+1G>A
ENST00000559177.5:c.428-19412G>A ENSP00000453477.1:n.428-19412G>A
ENST00000559177.6:c.545-19412G>A ENSP00000453477.2:n.545-19412G>A
ENST00000560801.5:c.1374+1G>A ENSP00000453644.2:n.1374+1G>A
ENST00000711434.1:c.1557+1G>A ENSP00000518752.1:n.1557+1G>A