Canonical Allele Identifier: CA391536861

Gene: TRPM1

Linked Data

• ClinVar Variation Id: 1347226
• ClinVar RCV Id: RCV002033042
• dbSNP Id: rs2140966903
• MyVariant Identifiers: chr15:g.31362233C>A (hg19) ; chr15:g.31070030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31070030C>A , CM000677.2:g.31070030C>A	GRCh38
NC_000015.9:g.31362233C>A , CM000677.1:g.31362233C>A	GRCh37
NC_000015.8:g.29149525C>A	NCBI36
NG_016453.1:g.36692G>T
NG_016453.2:g.96244G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711434.1:c.213+1G>T	ENSP00000518752.1:n.213+1G>T
ENST00000397795.7:c.213+1G>T	ENSP00000380897.2:n.213+1G>T
ENST00000558445.6:c.330+1G>T	ENSP00000452946.2:n.330+1G>T
ENST00000559177.6:c.330+1G>T	ENSP00000453477.2:n.330+1G>T
ENST00000559179.2:c.214G>T	ENSP00000453851.1:p.Val72Leu
ENST00000256552.11:c.279+1G>T MANE Select	ENSP00000256552.7:n.279+1G>T
ENST00000256552.10:c.279+1G>T	ENSP00000256552.6:n.279+1G>T
ENST00000397795.6:c.213+1G>T	ENSP00000380897.2:n.213+1G>T
ENST00000542188.5:c.330+1G>T	ENSP00000437849.1:n.330+1G>T
ENST00000558445.5:c.213+1G>T	ENSP00000452946.1:n.213+1G>T
ENST00000559177.5:c.213+1G>T	ENSP00000453477.1:n.213+1G>T
ENST00000559179.1:c.214G>T	ENSP00000453851.1:p.Val72Leu
ENST00000560658.5:c.213+1G>T	ENSP00000454077.1:n.213+1G>T
NM_001252020.1:c.330+1G>T	NP_001238949.1:n.330+1G>T
NM_001252024.1:c.279+1G>T	NP_001238953.1:n.279+1G>T
NM_001252030.1:c.214G>T	NP_001238959.1:p.Val72Leu
NM_002420.5:c.213+1G>T	NP_002411.3:n.213+1G>T
NM_001252024.2:c.279+1G>T MANE Select	NP_001238953.1:n.279+1G>T
NM_001252030.2:c.214G>T	NP_001238959.1:p.Val72Leu
NM_002420.6:c.213+1G>T	NP_002411.3:n.213+1G>T
NM_001252020.2:c.330+1G>T	NP_001238949.1:n.330+1G>T