Canonical Allele Identifier: CA2062564624
Community Standard Title: NM_021625.5(TRPV4):c.1772A= (p.Tyr591=)
Gene: TRPV4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109792704T= , CM000674.2:g.109792704T= GRCh38
NC_000012.11:g.110230509T= , CM000674.1:g.110230509T= GRCh37
NC_000012.10:g.108714892T= NCBI36
NG_017090.1:g.45704A= , LRG_372:g.45704A=

Transcript Alleles

HGVS Amino-acid Change
NM_021625.5:c.1772A= MANE Select NP_067638.3:p.Tyr591=
ENST00000261740.7:c.1772A= MANE Select ENSP00000261740.2:p.Tyr591=
NM_001177428.1:c.1631A= NP_001170899.1:p.Tyr544=
NM_001177431.1:c.1670A= NP_001170902.1:p.Tyr557=
NM_001177433.1:c.1451A= NP_001170904.1:p.Tyr484=
NM_021625.4:c.1772A= , LRG_372t1:c.1772A= NP_067638.3:p.Tyr591=
NM_147204.2:c.1592A= NP_671737.1:p.Tyr531=
ENST00000261740.6:c.1772A= ENSP00000261740.2:p.Tyr591=
ENST00000418703.6:c.1772A= ENSP00000406191.2:p.Tyr591=
ENST00000418703.7:c.1772A= ENSP00000406191.2:p.Tyr591=
ENST00000536838.1:c.1670A= ENSP00000444336.1:p.Tyr557=
ENST00000537083.5:c.1592A= ENSP00000442738.1:p.Tyr531=
ENST00000538125.5:c.*155A= ENSP00000437449.1:n.*155A=
ENST00000541794.5:c.1631A= ENSP00000442167.1:p.Tyr544=
ENST00000544971.5:c.1451A= ENSP00000443611.1:p.Tyr484=
ENST00000674908.1:c.*859A= ENSP00000502012.1:n.*859A=
ENST00000675533.1:n.1803A=
ENST00000675670.1:c.1772A= ENSP00000502135.1:p.Tyr591=
ENST00000676376.1:n.1803A=
XM_005253918.1:c.1772A= XP_005253975.1:p.Tyr591=
XM_011538630.1:c.1772A= XP_011536932.1:p.Tyr591=
XM_011538630.2:c.1925A= XP_011536932.2:p.Tyr642=
XM_011538631.1:c.1631A= XP_011536933.1:p.Tyr544=
XM_011538631.2:c.1784A= XP_011536933.2:p.Tyr595=
XM_011538632.1:c.1592A= XP_011536934.1:p.Tyr531=
XM_011538632.2:c.1745A= XP_011536934.2:p.Tyr582=
XM_011538633.1:c.1451A= XP_011536935.1:p.Tyr484=
XM_011538633.2:c.1604A= XP_011536935.2:p.Tyr535=
XM_011538634.1:c.1772A= XP_011536936.1:p.Tyr591=
XM_011538634.2:c.1925A= XP_011536936.2:p.Tyr642=
XM_011538635.1:c.1925A= XP_011536937.1:p.Tyr642=
XM_011538635.2:c.1925A= XP_011536937.1:p.Tyr642=
XM_011538636.1:c.*63A= XP_011536938.1:n.*63A=
XM_017019774.1:c.1772A= XP_016875263.1:p.Tyr591=