Canonical Allele Identifier: CA213022
Gene: TRPM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30363
ClinVar RCV Id: RCV000023311
dbSNP Id: rs786205113

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31032930G>T , CM000677.2:g.31032930G>T GRCh38
NC_000015.9:g.31325133G>T , CM000677.1:g.31325133G>T GRCh37
NC_000015.8:g.29112425G>T NCBI36
NG_016453.1:g.73792C>A
NG_016453.2:g.133344C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000711434.1:c.2645C>A ENSP00000518752.1:p.Ser882Ter
ENST00000397795.7:c.2645C>A ENSP00000380897.2:p.Ser882Ter
ENST00000558445.6:c.2762C>A ENSP00000452946.2:p.Ser921Ter
ENST00000559177.6:c.545-4454C>A ENSP00000453477.2:n.545-4454C>A
ENST00000256552.11:c.2711C>A MANE Select ENSP00000256552.7:p.Ser904Ter
ENST00000256552.10:c.2711C>A ENSP00000256552.6:p.Ser904Ter
ENST00000397795.6:c.2645C>A ENSP00000380897.2:p.Ser882Ter
ENST00000542188.5:c.2762C>A ENSP00000437849.1:p.Ser921Ter
ENST00000557948.1:n.86C>A
ENST00000558445.5:c.2645C>A ENSP00000452946.1:p.Ser882Ter
ENST00000558768.5:c.2414C>A ENSP00000453119.2:p.Ser805Ter
ENST00000559177.5:c.428-4454C>A ENSP00000453477.1:n.428-4454C>A
ENST00000560801.5:c.2462C>A ENSP00000453644.2:n.2462C>A
NM_001252020.1:c.2762C>A NP_001238949.1:p.Ser921Ter
NM_001252024.1:c.2711C>A NP_001238953.1:p.Ser904Ter
NM_002420.5:c.2645C>A NP_002411.3:p.Ser882Ter
XR_932055.1:n.261-2640G>T
XR_932056.1:n.90-2640G>T
XR_932057.1:n.261-2640G>T
XR_932058.1:n.89-2823G>T
XR_001751769.1:n.279-2823G>T
NM_001252024.2:c.2711C>A MANE Select NP_001238953.1:p.Ser904Ter
NM_002420.6:c.2645C>A NP_002411.3:p.Ser882Ter
NM_001252020.2:c.2762C>A NP_001238949.1:p.Ser921Ter