Canonical Allele Identifier: CA497454483

Gene: TRPV3

Linked Data

• MyVariant Identifiers: chr17:g.3427537C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524243C>G , CM000679.2:g.3524243C>G	GRCh38
NC_000017.10:g.3427537C>G , CM000679.1:g.3427537C>G	GRCh37
NC_000017.9:g.3374287C>G	NCBI36
NG_032144.2:g.38753G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576742.6:c.1698G>C MANE Select	ENSP00000461518.2:p.Thr566=
ENST00000301365.8:c.1698G>C	ENSP00000301365.4:p.Thr566=
ENST00000381913.8:c.960G>C
ENST00000571139.5:c.*1690G>C	ENSP00000458187.1:n.*1690G>C
ENST00000572519.1:c.1698G>C	ENSP00000460215.1:p.Thr566=
ENST00000573539.5:c.*1708G>C	ENSP00000458239.1:n.*1708G>C
ENST00000576742.5:c.1698G>C	ENSP00000461518.1:p.Thr566=
ENST00000577016.5:c.328+2611G>C
ENST00000616411.4:c.1650G>C	ENSP00000483947.1:p.Thr550=
NM_001258205.1:c.1698G>C	NP_001245134.1:p.Thr566=
NM_145068.3:c.1698G>C	NP_659505.1:p.Thr566=
XM_011523693.1:c.1577+2611G>C	XP_011521995.1:n.1577+2611G>C
XM_011523694.1:c.993G>C	XP_011521996.1:p.Thr331=
XM_011523695.1:c.651G>C	XP_011521997.1:p.Thr217=
XR_934004.1:n.1772G>C
NM_001258205.2:c.1698G>C	NP_001245134.1:p.Thr566=
NM_145068.4:c.1698G>C MANE Select	NP_659505.1:p.Thr566=