Canonical Allele Identifier: CA2243923269

Gene: TRPV3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524250T= , CM000679.2:g.3524250T=	GRCh38
NC_000017.10:g.3427544T= , CM000679.1:g.3427544T=	GRCh37
NC_000017.9:g.3374294T=	NCBI36
NG_032144.2:g.38746A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1691A= MANE Select	ENSP00000461518.2:p.Tyr564=
ENST00000301365.8:c.1691A=	ENSP00000301365.4:p.Tyr564=
ENST00000381913.8:c.953A=
ENST00000571139.5:c.*1683A=	ENSP00000458187.1:n.*1683A=
ENST00000572519.1:c.1691A=	ENSP00000460215.1:p.Tyr564=
ENST00000573539.5:c.*1701A=	ENSP00000458239.1:n.*1701A=
ENST00000576742.5:c.1691A=	ENSP00000461518.1:p.Tyr564=
ENST00000577016.5:c.328+2604A=
ENST00000616411.4:c.1643A=	ENSP00000483947.1:p.Tyr548=
NM_001258205.1:c.1691A=	NP_001245134.1:p.Tyr564=
NM_145068.3:c.1691A=	NP_659505.1:p.Tyr564=
XM_011523693.1:c.1577+2604A=	XP_011521995.1:n.1577+2604A=
XM_011523694.1:c.986A=	XP_011521996.1:p.Tyr329=
XM_011523695.1:c.644A=	XP_011521997.1:p.Tyr215=
XR_934004.1:n.1765A=
NM_001258205.2:c.1691A=	NP_001245134.1:p.Tyr564=
NM_145068.4:c.1691A= MANE Select	NP_659505.1:p.Tyr564=