Canonical Allele Identifier: CA391546598
Community Standard Title: NM_001252024.2(TRPM1):c.2711C>G (p.Ser904Ter)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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