Canonical Allele Identifier: CA397681874

Gene: TRPV3

Linked Data

• MyVariant Identifiers: chr17:g.3427581C>G (hg19) ; chr17:g.3524287C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524287C>G , CM000679.2:g.3524287C>G	GRCh38
NC_000017.10:g.3427581C>G , CM000679.1:g.3427581C>G	GRCh37
NC_000017.9:g.3374331C>G	NCBI36
NG_032144.2:g.38709G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1654G>C MANE Select	ENSP00000461518.2:p.Val552Leu
ENST00000301365.8:c.1654G>C	ENSP00000301365.4:p.Val552Leu
ENST00000381913.8:c.916G>C
ENST00000571139.5:c.*1646G>C	ENSP00000458187.1:n.*1646G>C
ENST00000572519.1:c.1654G>C	ENSP00000460215.1:p.Val552Leu
ENST00000573539.5:c.*1664G>C	ENSP00000458239.1:n.*1664G>C
ENST00000576742.5:c.1654G>C	ENSP00000461518.1:p.Val552Leu
ENST00000577016.5:c.328+2567G>C
ENST00000616411.4:c.1606G>C	ENSP00000483947.1:p.Val536Leu
NM_001258205.1:c.1654G>C	NP_001245134.1:p.Val552Leu
NM_145068.3:c.1654G>C	NP_659505.1:p.Val552Leu
XM_011523693.1:c.1577+2567G>C	XP_011521995.1:n.1577+2567G>C
XM_011523694.1:c.949G>C	XP_011521996.1:p.Val317Leu
XM_011523695.1:c.607G>C	XP_011521997.1:p.Val203Leu
XR_934004.1:n.1728G>C
NM_001258205.2:c.1654G>C	NP_001245134.1:p.Val552Leu
NM_145068.4:c.1654G>C MANE Select	NP_659505.1:p.Val552Leu