Canonical Allele Identifier: CA397681821

Gene: TRPV3

Linked Data

• MyVariant Identifiers: chr17:g.3427554T>A (hg19) ; chr17:g.3524260T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3524260T>A , CM000679.2:g.3524260T>A	GRCh38
NC_000017.10:g.3427554T>A , CM000679.1:g.3427554T>A	GRCh37
NC_000017.9:g.3374304T>A	NCBI36
NG_032144.2:g.38736A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576742.6:c.1681A>T MANE Select	ENSP00000461518.2:p.Asn561Tyr
ENST00000301365.8:c.1681A>T	ENSP00000301365.4:p.Asn561Tyr
ENST00000381913.8:c.943A>T
ENST00000571139.5:c.*1673A>T	ENSP00000458187.1:n.*1673A>T
ENST00000572519.1:c.1681A>T	ENSP00000460215.1:p.Asn561Tyr
ENST00000573539.5:c.*1691A>T	ENSP00000458239.1:n.*1691A>T
ENST00000576742.5:c.1681A>T	ENSP00000461518.1:p.Asn561Tyr
ENST00000577016.5:c.328+2594A>T
ENST00000616411.4:c.1633A>T	ENSP00000483947.1:p.Asn545Tyr
NM_001258205.1:c.1681A>T	NP_001245134.1:p.Asn561Tyr
NM_145068.3:c.1681A>T	NP_659505.1:p.Asn561Tyr
XM_011523693.1:c.1577+2594A>T	XP_011521995.1:n.1577+2594A>T
XM_011523694.1:c.976A>T	XP_011521996.1:p.Asn326Tyr
XM_011523695.1:c.634A>T	XP_011521997.1:p.Asn212Tyr
XR_934004.1:n.1755A>T
NM_001258205.2:c.1681A>T	NP_001245134.1:p.Asn561Tyr
NM_145068.4:c.1681A>T MANE Select	NP_659505.1:p.Asn561Tyr