Canonical Allele Identifier: CA397681888

Gene: TRPV3

Linked Data

• MyVariant Identifiers: chr17:g.3427587A>T (hg19) ; chr17:g.3524293A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524293A>T , CM000679.2:g.3524293A>T	GRCh38
NC_000017.10:g.3427587A>T , CM000679.1:g.3427587A>T	GRCh37
NC_000017.9:g.3374337A>T	NCBI36
NG_032144.2:g.38703T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1648T>A MANE Select	ENSP00000461518.2:p.Cys550Ser
ENST00000301365.8:c.1648T>A	ENSP00000301365.4:p.Cys550Ser
ENST00000381913.8:c.910T>A
ENST00000571139.5:c.*1640T>A	ENSP00000458187.1:n.*1640T>A
ENST00000572519.1:c.1648T>A	ENSP00000460215.1:p.Cys550Ser
ENST00000573539.5:c.*1658T>A	ENSP00000458239.1:n.*1658T>A
ENST00000576742.5:c.1648T>A	ENSP00000461518.1:p.Cys550Ser
ENST00000577016.5:c.328+2561T>A
ENST00000616411.4:c.1600T>A	ENSP00000483947.1:p.Cys534Ser
NM_001258205.1:c.1648T>A	NP_001245134.1:p.Cys550Ser
NM_145068.3:c.1648T>A	NP_659505.1:p.Cys550Ser
XM_011523693.1:c.1577+2561T>A	XP_011521995.1:n.1577+2561T>A
XM_011523694.1:c.943T>A	XP_011521996.1:p.Cys315Ser
XM_011523695.1:c.601T>A	XP_011521997.1:p.Cys201Ser
XR_934004.1:n.1722T>A
NM_001258205.2:c.1648T>A	NP_001245134.1:p.Cys550Ser
NM_145068.4:c.1648T>A MANE Select	NP_659505.1:p.Cys550Ser