Canonical Allele Identifier: CA2243923273

Gene: TRPV3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524254G= , CM000679.2:g.3524254G=	GRCh38
NC_000017.10:g.3427548G= , CM000679.1:g.3427548G=	GRCh37
NC_000017.9:g.3374298G=	NCBI36
NG_032144.2:g.38742C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1687C= MANE Select	ENSP00000461518.2:p.Leu563=
ENST00000301365.8:c.1687C=	ENSP00000301365.4:p.Leu563=
ENST00000381913.8:c.949C=
ENST00000571139.5:c.*1679C=	ENSP00000458187.1:n.*1679C=
ENST00000572519.1:c.1687C=	ENSP00000460215.1:p.Leu563=
ENST00000573539.5:c.*1697C=	ENSP00000458239.1:n.*1697C=
ENST00000576742.5:c.1687C=	ENSP00000461518.1:p.Leu563=
ENST00000577016.5:c.328+2600C=
ENST00000616411.4:c.1639C=	ENSP00000483947.1:p.Leu547=
NM_001258205.1:c.1687C=	NP_001245134.1:p.Leu563=
NM_145068.3:c.1687C=	NP_659505.1:p.Leu563=
XM_011523693.1:c.1577+2600C=	XP_011521995.1:n.1577+2600C=
XM_011523694.1:c.982C=	XP_011521996.1:p.Leu328=
XM_011523695.1:c.640C=	XP_011521997.1:p.Leu214=
XR_934004.1:n.1761C=
NM_001258205.2:c.1687C=	NP_001245134.1:p.Leu563=
NM_145068.4:c.1687C= MANE Select	NP_659505.1:p.Leu563=