Canonical Allele Identifier: CA2062564586
Community Standard Title: NM_021625.5(TRPV4):c.1787T= (p.Leu596=)
Gene: TRPV4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109792689A= , CM000674.2:g.109792689A= GRCh38
NC_000012.11:g.110230494A= , CM000674.1:g.110230494A= GRCh37
NC_000012.10:g.108714877A= NCBI36
NG_017090.1:g.45719T= , LRG_372:g.45719T=

Transcript Alleles

HGVS Amino-acid Change
NM_021625.5:c.1787T= MANE Select NP_067638.3:p.Leu596=
ENST00000261740.7:c.1787T= MANE Select ENSP00000261740.2:p.Leu596=
NM_001177428.1:c.1646T= NP_001170899.1:p.Leu549=
NM_001177431.1:c.1685T= NP_001170902.1:p.Leu562=
NM_001177433.1:c.1466T= NP_001170904.1:p.Leu489=
NM_021625.4:c.1787T= , LRG_372t1:c.1787T= NP_067638.3:p.Leu596=
NM_147204.2:c.1607T= NP_671737.1:p.Leu536=
ENST00000261740.6:c.1787T= ENSP00000261740.2:p.Leu596=
ENST00000418703.6:c.1787T= ENSP00000406191.2:p.Leu596=
ENST00000418703.7:c.1787T= ENSP00000406191.2:p.Leu596=
ENST00000536838.1:c.1685T= ENSP00000444336.1:p.Leu562=
ENST00000537083.5:c.1607T= ENSP00000442738.1:p.Leu536=
ENST00000538125.5:c.*170T= ENSP00000437449.1:n.*170T=
ENST00000541794.5:c.1646T= ENSP00000442167.1:p.Leu549=
ENST00000544971.5:c.1466T= ENSP00000443611.1:p.Leu489=
ENST00000674908.1:c.*874T= ENSP00000502012.1:n.*874T=
ENST00000675533.1:n.1818T=
ENST00000675670.1:c.1787T= ENSP00000502135.1:p.Leu596=
ENST00000676376.1:n.1818T=
XM_005253918.1:c.1787T= XP_005253975.1:p.Leu596=
XM_011538630.1:c.1787T= XP_011536932.1:p.Leu596=
XM_011538630.2:c.1940T= XP_011536932.2:p.Leu647=
XM_011538631.1:c.1646T= XP_011536933.1:p.Leu549=
XM_011538631.2:c.1799T= XP_011536933.2:p.Leu600=
XM_011538632.1:c.1607T= XP_011536934.1:p.Leu536=
XM_011538632.2:c.1760T= XP_011536934.2:p.Leu587=
XM_011538633.1:c.1466T= XP_011536935.1:p.Leu489=
XM_011538633.2:c.1619T= XP_011536935.2:p.Leu540=
XM_011538634.1:c.1787T= XP_011536936.1:p.Leu596=
XM_011538634.2:c.1940T= XP_011536936.2:p.Leu647=
XM_011538635.1:c.1940T= XP_011536937.1:p.Leu647=
XM_011538635.2:c.1940T= XP_011536937.1:p.Leu647=
XM_011538636.1:c.*78T= XP_011536938.1:n.*78T=
XM_017019774.1:c.1787T= XP_016875263.1:p.Leu596=