Canonical Allele Identifier: CA2243916648

Gene: TRPV3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3518587A= , CM000679.2:g.3518587A=	GRCh38
NC_000017.10:g.3421881A= , CM000679.1:g.3421881A=	GRCh37
NC_000017.9:g.3368631A=	NCBI36
NG_032144.2:g.44409T=

Transcript Alleles

HGVS	Amino-acid Change
NM_145068.4:c.2074T= MANE Select	NP_659505.1:p.Trp692=
ENST00000576742.6:c.2074T= MANE Select	ENSP00000461518.2:p.Trp692=
NM_001258205.1:c.2074T=	NP_001245134.1:p.Trp692=
NM_001258205.2:c.2074T=	NP_001245134.1:p.Trp692=
NM_145068.3:c.2074T=	NP_659505.1:p.Trp692=
ENST00000301365.8:c.2074T=	ENSP00000301365.4:p.Trp692=
ENST00000381913.8:c.1336T=
ENST00000571139.5:c.*2066T=	ENSP00000458187.1:n.*2066T=
ENST00000572519.1:c.2074T=	ENSP00000460215.1:p.Trp692=
ENST00000573539.5:c.*2084T=	ENSP00000458239.1:n.*2084T=
ENST00000576742.5:c.2074T=	ENSP00000461518.1:p.Trp692=
ENST00000577016.5:c.592T=
ENST00000616411.4:c.2026T=	ENSP00000483947.1:p.Trp676=
XM_011523694.1:c.1369T=	XP_011521996.1:p.Trp457=
XM_011523695.1:c.1027T=	XP_011521997.1:p.Trp343=
XR_934004.1:n.2148T=