Canonical Allele Identifier: CA397681990

Gene: TRPV3

Linked Data

• MyVariant Identifiers: chr17:g.3427635T>G (hg19) ; chr17:g.3524341T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524341T>G , CM000679.2:g.3524341T>G	GRCh38
NC_000017.10:g.3427635T>G , CM000679.1:g.3427635T>G	GRCh37
NC_000017.9:g.3374385T>G	NCBI36
NG_032144.2:g.38655A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1600A>C MANE Select	ENSP00000461518.2:p.Ile534Leu
ENST00000301365.8:c.1600A>C	ENSP00000301365.4:p.Ile534Leu
ENST00000381913.8:c.899-37A>C
ENST00000571139.5:c.*1592A>C	ENSP00000458187.1:n.*1592A>C
ENST00000572519.1:c.1600A>C	ENSP00000460215.1:p.Ile534Leu
ENST00000573539.5:c.*1647-37A>C	ENSP00000458239.1:n.*1647-37A>C
ENST00000576742.5:c.1600A>C	ENSP00000461518.1:p.Ile534Leu
ENST00000577016.5:c.328+2513A>C
ENST00000616411.4:c.1552A>C	ENSP00000483947.1:p.Ile518Leu
NM_001258205.1:c.1600A>C	NP_001245134.1:p.Ile534Leu
NM_145068.3:c.1600A>C	NP_659505.1:p.Ile534Leu
XM_011523693.1:c.1577+2513A>C	XP_011521995.1:n.1577+2513A>C
XM_011523694.1:c.895A>C	XP_011521996.1:p.Ile299Leu
XM_011523695.1:c.553A>C	XP_011521997.1:p.Ile185Leu
XR_934004.1:n.1711-37A>C
NM_001258205.2:c.1600A>C	NP_001245134.1:p.Ile534Leu
NM_145068.4:c.1600A>C MANE Select	NP_659505.1:p.Ile534Leu