Canonical Allele Identifier: CA2062564616
Community Standard Title: NM_021625.5(TRPV4):c.1774T= (p.Phe592=)
Gene: TRPV4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109792702A= , CM000674.2:g.109792702A= GRCh38
NC_000012.11:g.110230507A= , CM000674.1:g.110230507A= GRCh37
NC_000012.10:g.108714890A= NCBI36
NG_017090.1:g.45706T= , LRG_372:g.45706T=

Transcript Alleles

HGVS Amino-acid Change
NM_021625.5:c.1774T= MANE Select NP_067638.3:p.Phe592=
ENST00000261740.7:c.1774T= MANE Select ENSP00000261740.2:p.Phe592=
NM_001177428.1:c.1633T= NP_001170899.1:p.Phe545=
NM_001177431.1:c.1672T= NP_001170902.1:p.Phe558=
NM_001177433.1:c.1453T= NP_001170904.1:p.Phe485=
NM_021625.4:c.1774T= , LRG_372t1:c.1774T= NP_067638.3:p.Phe592=
NM_147204.2:c.1594T= NP_671737.1:p.Phe532=
ENST00000261740.6:c.1774T= ENSP00000261740.2:p.Phe592=
ENST00000418703.6:c.1774T= ENSP00000406191.2:p.Phe592=
ENST00000418703.7:c.1774T= ENSP00000406191.2:p.Phe592=
ENST00000536838.1:c.1672T= ENSP00000444336.1:p.Phe558=
ENST00000537083.5:c.1594T= ENSP00000442738.1:p.Phe532=
ENST00000538125.5:c.*157T= ENSP00000437449.1:n.*157T=
ENST00000541794.5:c.1633T= ENSP00000442167.1:p.Phe545=
ENST00000544971.5:c.1453T= ENSP00000443611.1:p.Phe485=
ENST00000674908.1:c.*861T= ENSP00000502012.1:n.*861T=
ENST00000675533.1:n.1805T=
ENST00000675670.1:c.1774T= ENSP00000502135.1:p.Phe592=
ENST00000676376.1:n.1805T=
XM_005253918.1:c.1774T= XP_005253975.1:p.Phe592=
XM_011538630.1:c.1774T= XP_011536932.1:p.Phe592=
XM_011538630.2:c.1927T= XP_011536932.2:p.Phe643=
XM_011538631.1:c.1633T= XP_011536933.1:p.Phe545=
XM_011538631.2:c.1786T= XP_011536933.2:p.Phe596=
XM_011538632.1:c.1594T= XP_011536934.1:p.Phe532=
XM_011538632.2:c.1747T= XP_011536934.2:p.Phe583=
XM_011538633.1:c.1453T= XP_011536935.1:p.Phe485=
XM_011538633.2:c.1606T= XP_011536935.2:p.Phe536=
XM_011538634.1:c.1774T= XP_011536936.1:p.Phe592=
XM_011538634.2:c.1927T= XP_011536936.2:p.Phe643=
XM_011538635.1:c.1927T= XP_011536937.1:p.Phe643=
XM_011538635.2:c.1927T= XP_011536937.1:p.Phe643=
XM_011538636.1:c.*65T= XP_011536938.1:n.*65T=
XM_017019774.1:c.1774T= XP_016875263.1:p.Phe592=