Canonical Allele Identifier: CA7452296

Gene: TRPM1

Linked Data

• ClinVar Variation Id: 315516
• ClinVar RCV Id: RCV000597435 ; RCV000957912 ; RCV000989281
• dbSNP Id: rs138944426
• ExAC: 15:31332488 C / G
• gnomAD v2: 15-31332488-C-G
• gnomAD v3: 15-31040285-C-G
• gnomAD v4: 15-31040285-C-G
• MyVariant Identifiers: chr15:g.31332488C>G (hg19) ; chr15:g.31040285C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31040285C>G , CM000677.2:g.31040285C>G	GRCh38
NC_000015.9:g.31332488C>G , CM000677.1:g.31332488C>G	GRCh37
NC_000015.8:g.29119780C>G	NCBI36
NG_016453.1:g.66437G>C
NG_016453.2:g.125989G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711434.1:c.2083G>C	ENSP00000518752.1:p.Ala695Pro
ENST00000397795.7:c.2083G>C	ENSP00000380897.2:p.Ala695Pro
ENST00000558445.6:c.2200G>C	ENSP00000452946.2:p.Ala734Pro
ENST00000559177.6:c.545-11809G>C	ENSP00000453477.2:n.545-11809G>C
ENST00000256552.11:c.2149G>C MANE Select	ENSP00000256552.7:p.Ala717Pro
ENST00000256552.10:c.2149G>C	ENSP00000256552.6:p.Ala717Pro
ENST00000397795.6:c.2083G>C	ENSP00000380897.2:p.Ala695Pro
ENST00000542188.5:c.2200G>C	ENSP00000437849.1:p.Ala734Pro
ENST00000558445.5:c.2083G>C	ENSP00000452946.1:p.Ala695Pro
ENST00000558768.5:c.1852G>C	ENSP00000453119.2:p.Ala618Pro
ENST00000559177.5:c.428-11809G>C	ENSP00000453477.1:n.428-11809G>C
ENST00000560801.5:c.1900G>C	ENSP00000453644.2:n.1900G>C
NM_001252020.1:c.2200G>C	NP_001238949.1:p.Ala734Pro
NM_001252024.1:c.2149G>C	NP_001238953.1:p.Ala717Pro
NM_002420.5:c.2083G>C	NP_002411.3:p.Ala695Pro
NM_001252024.2:c.2149G>C MANE Select	NP_001238953.1:p.Ala717Pro
NM_002420.6:c.2083G>C	NP_002411.3:p.Ala695Pro
NM_001252020.2:c.2200G>C	NP_001238949.1:p.Ala734Pro