Canonical Allele Identifier: CA200136

Gene: TRPV3

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524202T>G , CM000679.2:g.3524202T>G	GRCh38
NC_000017.10:g.3427496T>G , CM000679.1:g.3427496T>G	GRCh37
NC_000017.9:g.3374246T>G	NCBI36
NG_032144.2:g.38794A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1739A>C MANE Select	ENSP00000461518.2:p.Gln580Pro
ENST00000301365.8:c.1739A>C	ENSP00000301365.4:p.Gln580Pro
ENST00000381913.8:c.1001A>C
ENST00000571139.5:c.*1731A>C	ENSP00000458187.1:n.*1731A>C
ENST00000572519.1:c.1739A>C	ENSP00000460215.1:p.Gln580Pro
ENST00000573539.5:c.*1749A>C	ENSP00000458239.1:n.*1749A>C
ENST00000576742.5:c.1739A>C	ENSP00000461518.1:p.Gln580Pro
ENST00000577016.5:c.328+2652A>C
ENST00000616411.4:c.1691A>C	ENSP00000483947.1:p.Gln564Pro
NM_001258205.1:c.1739A>C	NP_001245134.1:p.Gln580Pro
NM_145068.3:c.1739A>C	NP_659505.1:p.Gln580Pro
XM_011523693.1:c.1577+2652A>C	XP_011521995.1:n.1577+2652A>C
XM_011523694.1:c.1034A>C	XP_011521996.1:p.Gln345Pro
XM_011523695.1:c.692A>C	XP_011521997.1:p.Gln231Pro
XR_934004.1:n.1813A>C
NM_001258205.2:c.1739A>C	NP_001245134.1:p.Gln580Pro
NM_145068.4:c.1739A>C MANE Select	NP_659505.1:p.Gln580Pro