Canonical Allele Identifier: CA2243923277

Gene: TRPV3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524256A= , CM000679.2:g.3524256A=	GRCh38
NC_000017.10:g.3427550A= , CM000679.1:g.3427550A=	GRCh37
NC_000017.9:g.3374300A=	NCBI36
NG_032144.2:g.38740T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1685T= MANE Select	ENSP00000461518.2:p.Met562=
ENST00000301365.8:c.1685T=	ENSP00000301365.4:p.Met562=
ENST00000381913.8:c.947T=
ENST00000571139.5:c.*1677T=	ENSP00000458187.1:n.*1677T=
ENST00000572519.1:c.1685T=	ENSP00000460215.1:p.Met562=
ENST00000573539.5:c.*1695T=	ENSP00000458239.1:n.*1695T=
ENST00000576742.5:c.1685T=	ENSP00000461518.1:p.Met562=
ENST00000577016.5:c.328+2598T=
ENST00000616411.4:c.1637T=	ENSP00000483947.1:p.Met546=
NM_001258205.1:c.1685T=	NP_001245134.1:p.Met562=
NM_145068.3:c.1685T=	NP_659505.1:p.Met562=
XM_011523693.1:c.1577+2598T=	XP_011521995.1:n.1577+2598T=
XM_011523694.1:c.980T=	XP_011521996.1:p.Met327=
XM_011523695.1:c.638T=	XP_011521997.1:p.Met213=
XR_934004.1:n.1759T=
NM_001258205.2:c.1685T=	NP_001245134.1:p.Met562=
NM_145068.4:c.1685T= MANE Select	NP_659505.1:p.Met562=