Canonical Allele Identifier: CA397681945

Gene: TRPV3

Linked Data

• MyVariant Identifiers: chr17:g.3427614A>T (hg19) ; chr17:g.3524320A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524320A>T , CM000679.2:g.3524320A>T	GRCh38
NC_000017.10:g.3427614A>T , CM000679.1:g.3427614A>T	GRCh37
NC_000017.9:g.3374364A>T	NCBI36
NG_032144.2:g.38676T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1621T>A MANE Select	ENSP00000461518.2:p.Leu541Met
ENST00000301365.8:c.1621T>A	ENSP00000301365.4:p.Leu541Met
ENST00000381913.8:c.899-16T>A
ENST00000571139.5:c.*1613T>A	ENSP00000458187.1:n.*1613T>A
ENST00000572519.1:c.1621T>A	ENSP00000460215.1:p.Leu541Met
ENST00000573539.5:c.*1647-16T>A	ENSP00000458239.1:n.*1647-16T>A
ENST00000576742.5:c.1621T>A	ENSP00000461518.1:p.Leu541Met
ENST00000577016.5:c.328+2534T>A
ENST00000616411.4:c.1573T>A	ENSP00000483947.1:p.Leu525Met
NM_001258205.1:c.1621T>A	NP_001245134.1:p.Leu541Met
NM_145068.3:c.1621T>A	NP_659505.1:p.Leu541Met
XM_011523693.1:c.1577+2534T>A	XP_011521995.1:n.1577+2534T>A
XM_011523694.1:c.916T>A	XP_011521996.1:p.Leu306Met
XM_011523695.1:c.574T>A	XP_011521997.1:p.Leu192Met
XR_934004.1:n.1711-16T>A
NM_001258205.2:c.1621T>A	NP_001245134.1:p.Leu541Met
NM_145068.4:c.1621T>A MANE Select	NP_659505.1:p.Leu541Met