Canonical Allele Identifier: CA7451872
Community Standard Title: NM_001252024.2(TRPM1):c.3496+2T>C
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31026913A>G , CM000677.2:g.31026913A>G GRCh38
NC_000015.9:g.31319116A>G , CM000677.1:g.31319116A>G GRCh37
NC_000015.8:g.29106408A>G NCBI36
NG_016453.1:g.79809T>C
NG_016453.2:g.139361T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.3496+2T>C MANE Select NP_001238953.1:n.3496+2T>C
ENST00000256552.11:c.3496+2T>C MANE Select ENSP00000256552.7:n.3496+2T>C
NM_001252020.1:c.3547+2T>C NP_001238949.1:n.3547+2T>C
NM_001252020.2:c.3547+2T>C NP_001238949.1:n.3547+2T>C
NM_001252024.1:c.3496+2T>C NP_001238953.1:n.3496+2T>C
NM_002420.5:c.3430+2T>C NP_002411.3:n.3430+2T>C
NM_002420.6:c.3430+2T>C NP_002411.3:n.3430+2T>C
ENST00000256552.10:c.3496+2T>C ENSP00000256552.6:n.3496+2T>C
ENST00000397795.6:c.3430+2T>C ENSP00000380897.2:n.3430+2T>C
ENST00000397795.7:c.3430+2T>C ENSP00000380897.2:n.3430+2T>C
ENST00000542188.5:c.3547+2T>C ENSP00000437849.1:n.3547+2T>C
ENST00000558445.5:c.3430+2T>C ENSP00000452946.1:n.3430+2T>C
ENST00000558445.6:c.3547+2T>C ENSP00000452946.2:n.3547+2T>C
ENST00000558768.5:c.3199+2T>C ENSP00000453119.2:n.3199+2T>C
ENST00000559177.5:c.775+2T>C ENSP00000453477.1:n.775+2T>C
ENST00000559177.6:c.892+2T>C ENSP00000453477.2:n.892+2T>C
ENST00000560801.5:c.3072+2T>C ENSP00000453644.2:n.3072+2T>C
ENST00000711434.1:c.3448+2T>C ENSP00000518752.1:n.3448+2T>C
XR_001751769.1:n.132-52A>G
XR_932055.1:n.114-52A>G
XR_932057.1:n.114-52A>G