Canonical Allele Identifier: CA2062565458
Community Standard Title: NM_021625.5(TRPV4):c.1625C= (p.Ser542=)
Gene: TRPV4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109793560G= , CM000674.2:g.109793560G= GRCh38
NC_000012.11:g.110231365G= , CM000674.1:g.110231365G= GRCh37
NC_000012.10:g.108715748G= NCBI36
NG_017090.1:g.44848C= , LRG_372:g.44848C=

Transcript Alleles

HGVS Amino-acid Change
NM_021625.5:c.1625C= MANE Select NP_067638.3:p.Ser542=
ENST00000261740.7:c.1625C= MANE Select ENSP00000261740.2:p.Ser542=
NM_001177428.1:c.1484C= NP_001170899.1:p.Ser495=
NM_001177431.1:c.1523C= NP_001170902.1:p.Ser508=
NM_001177433.1:c.1304C= NP_001170904.1:p.Ser435=
NM_021625.4:c.1625C= , LRG_372t1:c.1625C= NP_067638.3:p.Ser542=
NM_147204.2:c.1445C= NP_671737.1:p.Ser482=
ENST00000261740.6:c.1625C= ENSP00000261740.2:p.Ser542=
ENST00000418703.6:c.1625C= ENSP00000406191.2:p.Ser542=
ENST00000418703.7:c.1625C= ENSP00000406191.2:p.Ser542=
ENST00000536838.1:c.1523C= ENSP00000444336.1:p.Ser508=
ENST00000537083.5:c.1445C= ENSP00000442738.1:p.Ser482=
ENST00000538125.5:c.1625C= ENSP00000437449.1:p.Ser542=
ENST00000541794.5:c.1484C= ENSP00000442167.1:p.Ser495=
ENST00000544971.5:c.1304C= ENSP00000443611.1:p.Ser435=
ENST00000674908.1:c.*712C= ENSP00000502012.1:n.*712C=
ENST00000675533.1:n.1656C=
ENST00000675670.1:c.1625C= ENSP00000502135.1:p.Ser542=
ENST00000676376.1:n.1656C=
XM_005253918.1:c.1625C= XP_005253975.1:p.Ser542=
XM_011538630.1:c.1625C= XP_011536932.1:p.Ser542=
XM_011538630.2:c.1778C= XP_011536932.2:p.Ser593=
XM_011538631.1:c.1484C= XP_011536933.1:p.Ser495=
XM_011538631.2:c.1637C= XP_011536933.2:p.Ser546=
XM_011538632.1:c.1445C= XP_011536934.1:p.Ser482=
XM_011538632.2:c.1598C= XP_011536934.2:p.Ser533=
XM_011538633.1:c.1304C= XP_011536935.1:p.Ser435=
XM_011538633.2:c.1457C= XP_011536935.2:p.Ser486=
XM_011538634.1:c.1625C= XP_011536936.1:p.Ser542=
XM_011538634.2:c.1778C= XP_011536936.2:p.Ser593=
XM_011538635.1:c.1778C= XP_011536937.1:p.Ser593=
XM_011538635.2:c.1778C= XP_011536937.1:p.Ser593=
XM_011538636.1:c.1778C= XP_011536938.1:p.Ser593=
XM_017019774.1:c.1625C= XP_016875263.1:p.Ser542=