Canonical Allele Identifier: CA658682643

Gene: TRPV4

Linked Data

• PubMed: PMID:27330106

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.[109783751A>T;109783754_109783757del] , CM000674.2:g.[109783751A>T;109783754_109783757del]	GRCh38
NC_000012.11:g.[110221556A>T;110221559_110221562del] , CM000674.1:g.[110221556A>T;110221559_110221562del]	GRCh37
NC_000012.10:g.[108705939A>T;108705942_108705945del]	NCBI36
NG_017090.1:g.[54652_54655del;54657T>A] , LRG_372:g.[54652_54655del;54657T>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.[2481_2484del;2486T>A] MANE Select	ENSP00000261740.2:p.Val829TrpfsTer3
ENST00000418703.7:c.[2481_2484del;2486T>A]	ENSP00000406191.2:p.Val829TrpfsTer3
ENST00000674908.1:c.[*1568_*1571del;*1573T>A]	ENSP00000502012.1:n.[*1568_*1571del;*1573T>A]
ENST00000675670.1:c.[2481_2484del;2486T>A]	ENSP00000502135.1:p.Val829TrpfsTer3
ENST00000261740.6:c.[2481_2484del;2486T>A]	ENSP00000261740.2:p.Val829TrpfsTer3
ENST00000418703.6:c.[2481_2484del;2486T>A]	ENSP00000406191.2:p.Val829TrpfsTer3
ENST00000536838.1:c.[2379_2382del;2384T>A]	ENSP00000444336.1:p.Val795TrpfsTer3
ENST00000537083.5:c.[2301_2304del;2306T>A]	ENSP00000442738.1:p.Val769TrpfsTer3
ENST00000538125.5:c.[*864_*867del;*869T>A]	ENSP00000437449.1:n.[*864_*867del;*869T>A]
ENST00000541794.5:c.[2340_2343del;2345T>A]	ENSP00000442167.1:p.Val782TrpfsTer3
ENST00000544971.5:c.[2160_2163del;2165T>A]	ENSP00000443611.1:p.Val722TrpfsTer3
NM_001177428.1:c.[2340_2343del;2345T>A]	NP_001170899.1:p.Val782TrpfsTer3
NM_001177431.1:c.[2379_2382del;2384T>A]	NP_001170902.1:p.Val795TrpfsTer3
NM_001177433.1:c.[2160_2163del;2165T>A]	NP_001170904.1:p.Val722TrpfsTer3
NM_021625.4:c.[2481_2484del;2486T>A] , LRG_372t1:c.[2481_2484del;2486T>A]	NP_067638.3:p.Val829TrpfsTer3
NM_147204.2:c.[2301_2304del;2306T>A]	NP_671737.1:p.Val769TrpfsTer3
XM_005253918.1:c.[2481_2484del;2486T>A]	XP_005253975.1:p.Val829TrpfsTer3
XM_011538630.1:c.[2481_2484del;2486T>A]	XP_011536932.1:p.Val829TrpfsTer3
XM_011538631.1:c.[2340_2343del;2345T>A]	XP_011536933.1:p.Val782TrpfsTer3
XM_011538632.1:c.[2301_2304del;2306T>A]	XP_011536934.1:p.Val769TrpfsTer3
XM_011538633.1:c.[2160_2163del;2165T>A]	XP_011536935.1:p.Val722TrpfsTer3
XM_011538630.2:c.[2634_2637del;2639T>A]	XP_011536932.2:p.Val880TrpfsTer3
XM_011538631.2:c.[2493_2496del;2498T>A]	XP_011536933.2:p.Val833TrpfsTer3
XM_011538632.2:c.[2454_2457del;2459T>A]	XP_011536934.2:p.Val820TrpfsTer3
XM_011538633.2:c.[2313_2316del;2318T>A]	XP_011536935.2:p.Val773TrpfsTer3
XM_017019774.1:c.[2481_2484del;2486T>A]	XP_016875263.1:p.Val829TrpfsTer3
NM_021625.5:c.[2481_2484del;2486T>A] MANE Select	NP_067638.3:p.Val829TrpfsTer3