Canonical Allele Identifier: CA10635766
Gene: TRPM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 315538
ClinVar RCV Id: RCV000373980
dbSNP Id: rs886051034

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31070202G>T , CM000677.2:g.31070202G>T GRCh38
NC_000015.9:g.31362405G>T , CM000677.1:g.31362405G>T GRCh37
NC_000015.8:g.29149697G>T NCBI36
NG_016453.1:g.36520C>A
NG_016453.2:g.96072C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000711434.1:c.42C>A ENSP00000518752.1:p.Asn14Lys
ENST00000397795.7:c.42C>A ENSP00000380897.2:p.Asn14Lys
ENST00000558445.6:c.159C>A ENSP00000452946.2:p.Asn53Lys
ENST00000559177.6:c.159C>A ENSP00000453477.2:p.Asn53Lys
ENST00000559179.2:c.42C>A ENSP00000453851.1:p.Asn14Lys
ENST00000256552.11:c.108C>A MANE Select ENSP00000256552.7:p.Asn36Lys
ENST00000256552.10:c.108C>A ENSP00000256552.6:p.Asn36Lys
ENST00000397795.6:c.42C>A ENSP00000380897.2:p.Asn14Lys
ENST00000542188.5:c.159C>A ENSP00000437849.1:p.Asn53Lys
ENST00000558445.5:c.42C>A ENSP00000452946.1:p.Asn14Lys
ENST00000559177.5:c.42C>A ENSP00000453477.1:p.Asn14Lys
ENST00000559179.1:c.42C>A ENSP00000453851.1:p.Asn14Lys
ENST00000560658.5:c.42C>A ENSP00000454077.1:p.Asn14Lys
NM_001252020.1:c.159C>A NP_001238949.1:p.Asn53Lys
NM_001252024.1:c.108C>A NP_001238953.1:p.Asn36Lys
NM_001252030.1:c.42C>A NP_001238959.1:p.Asn14Lys
NM_002420.5:c.42C>A NP_002411.3:p.Asn14Lys
NM_001252024.2:c.108C>A MANE Select NP_001238953.1:p.Asn36Lys
NM_001252030.2:c.42C>A NP_001238959.1:p.Asn14Lys
NM_002420.6:c.42C>A NP_002411.3:p.Asn14Lys
NM_001252020.2:c.159C>A NP_001238949.1:p.Asn53Lys