Canonical Allele Identifier: CA2243916739

Gene: TRPV3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3518644G= , CM000679.2:g.3518644G=	GRCh38
NC_000017.10:g.3421938G= , CM000679.1:g.3421938G=	GRCh37
NC_000017.9:g.3368688G=	NCBI36
NG_032144.2:g.44352C=

Transcript Alleles

HGVS	Amino-acid Change
NM_145068.4:c.2017C= MANE Select	NP_659505.1:p.Leu673=
ENST00000576742.6:c.2017C= MANE Select	ENSP00000461518.2:p.Leu673=
NM_001258205.1:c.2017C=	NP_001245134.1:p.Leu673=
NM_001258205.2:c.2017C=	NP_001245134.1:p.Leu673=
NM_145068.3:c.2017C=	NP_659505.1:p.Leu673=
ENST00000301365.8:c.2017C=	ENSP00000301365.4:p.Leu673=
ENST00000381913.8:c.1279C=
ENST00000571139.5:c.*2009C=	ENSP00000458187.1:n.*2009C=
ENST00000572519.1:c.2017C=	ENSP00000460215.1:p.Leu673=
ENST00000573539.5:c.*2027C=	ENSP00000458239.1:n.*2027C=
ENST00000576742.5:c.2017C=	ENSP00000461518.1:p.Leu673=
ENST00000577016.5:c.535C=
ENST00000616411.4:c.1969C=	ENSP00000483947.1:p.Leu657=
XM_011523693.1:c.*95C=	XP_011521995.1:n.*95C=
XM_011523694.1:c.1312C=	XP_011521996.1:p.Leu438=
XM_011523695.1:c.970C=	XP_011521997.1:p.Leu324=
XR_934004.1:n.2091C=