Canonical Allele Identifier: CA129383

Gene: TRPV3

Linked Data

• ClinVar Variation Id: 30636
• ClinVar RCV Id: RCV000023611 ; RCV000059642
• dbSNP Id: rs199473704
• MyVariant Identifiers: chr17:g.3427518C>T (hg19) ; chr17:g.3524224C>T (hg38)
• PubMed: PMID:22405088

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524224C>T , CM000679.2:g.3524224C>T	GRCh38
NC_000017.10:g.3427518C>T , CM000679.1:g.3427518C>T	GRCh37
NC_000017.9:g.3374268C>T	NCBI36
NG_032144.2:g.38772G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1717G>A MANE Select	ENSP00000461518.2:p.Gly573Ser
ENST00000301365.8:c.1717G>A	ENSP00000301365.4:p.Gly573Ser
ENST00000381913.8:c.979G>A
ENST00000571139.5:c.*1709G>A	ENSP00000458187.1:n.*1709G>A
ENST00000572519.1:c.1717G>A	ENSP00000460215.1:p.Gly573Ser
ENST00000573539.5:c.*1727G>A	ENSP00000458239.1:n.*1727G>A
ENST00000576742.5:c.1717G>A	ENSP00000461518.1:p.Gly573Ser
ENST00000577016.5:c.328+2630G>A
ENST00000616411.4:c.1669G>A	ENSP00000483947.1:p.Gly557Ser
NM_001258205.1:c.1717G>A	NP_001245134.1:p.Gly573Ser
NM_145068.3:c.1717G>A	NP_659505.1:p.Gly573Ser
XM_011523693.1:c.1577+2630G>A	XP_011521995.1:n.1577+2630G>A
XM_011523694.1:c.1012G>A	XP_011521996.1:p.Gly338Ser
XM_011523695.1:c.670G>A	XP_011521997.1:p.Gly224Ser
XR_934004.1:n.1791G>A
NM_001258205.2:c.1717G>A	NP_001245134.1:p.Gly573Ser
NM_145068.4:c.1717G>A MANE Select	NP_659505.1:p.Gly573Ser