Canonical Allele Identifier: CA391544078
Community Standard Title: NM_001252024.2(TRPM1):c.3174T>G (p.Asp1058Glu)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31028451A>C , CM000677.2:g.31028451A>C GRCh38
NC_000015.9:g.31320654A>C , CM000677.1:g.31320654A>C GRCh37
NC_000015.8:g.29107946A>C NCBI36
NG_016453.1:g.78271T>G
NG_016453.2:g.137823T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.3174T>G MANE Select NP_001238953.1:p.Asp1058Glu
ENST00000256552.11:c.3174T>G MANE Select ENSP00000256552.7:p.Asp1058Glu
NM_001252020.1:c.3225T>G NP_001238949.1:p.Asp1075Glu
NM_001252020.2:c.3225T>G NP_001238949.1:p.Asp1075Glu
NM_001252024.1:c.3174T>G NP_001238953.1:p.Asp1058Glu
NM_002420.5:c.3108T>G NP_002411.3:p.Asp1036Glu
NM_002420.6:c.3108T>G NP_002411.3:p.Asp1036Glu
ENST00000256552.10:c.3174T>G ENSP00000256552.6:p.Asp1058Glu
ENST00000397795.6:c.3108T>G ENSP00000380897.2:p.Asp1036Glu
ENST00000397795.7:c.3108T>G ENSP00000380897.2:p.Asp1036Glu
ENST00000542188.5:c.3225T>G ENSP00000437849.1:p.Asp1075Glu
ENST00000557948.1:n.549T>G
ENST00000558212.5:n.397T>G
ENST00000558445.5:c.3108T>G ENSP00000452946.1:p.Asp1036Glu
ENST00000558445.6:c.3225T>G ENSP00000452946.2:p.Asp1075Glu
ENST00000558768.5:c.2877T>G ENSP00000453119.2:p.Asp959Glu
ENST00000559177.5:c.453T>G ENSP00000453477.1:p.Asp151Glu
ENST00000559177.6:c.570T>G ENSP00000453477.2:p.Asp190Glu
ENST00000560801.5:c.2750T>G ENSP00000453644.2:n.2750T>G
ENST00000711434.1:c.3126T>G ENSP00000518752.1:p.Asp1042Glu
XR_001751769.1:n.278+1340A>C
XR_932055.1:n.260+1340A>C
XR_932056.1:n.89+1340A>C
XR_932057.1:n.260+1340A>C
XR_932058.1:n.88+1340A>C