Canonical Allele Identifier: CA2062564556
Community Standard Title: NM_021625.5(TRPV4):c.1805A= (p.Tyr602=)
Gene: TRPV4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109792671T= , CM000674.2:g.109792671T= GRCh38
NC_000012.11:g.110230476T= , CM000674.1:g.110230476T= GRCh37
NC_000012.10:g.108714859T= NCBI36
NG_017090.1:g.45737A= , LRG_372:g.45737A=

Transcript Alleles

HGVS Amino-acid Change
NM_021625.5:c.1805A= MANE Select NP_067638.3:p.Tyr602=
ENST00000261740.7:c.1805A= MANE Select ENSP00000261740.2:p.Tyr602=
NM_001177428.1:c.1664A= NP_001170899.1:p.Tyr555=
NM_001177431.1:c.1703A= NP_001170902.1:p.Tyr568=
NM_001177433.1:c.1484A= NP_001170904.1:p.Tyr495=
NM_021625.4:c.1805A= , LRG_372t1:c.1805A= NP_067638.3:p.Tyr602=
NM_147204.2:c.1625A= NP_671737.1:p.Tyr542=
ENST00000261740.6:c.1805A= ENSP00000261740.2:p.Tyr602=
ENST00000418703.6:c.1805A= ENSP00000406191.2:p.Tyr602=
ENST00000418703.7:c.1805A= ENSP00000406191.2:p.Tyr602=
ENST00000536838.1:c.1703A= ENSP00000444336.1:p.Tyr568=
ENST00000537083.5:c.1625A= ENSP00000442738.1:p.Tyr542=
ENST00000538125.5:c.*188A= ENSP00000437449.1:n.*188A=
ENST00000541794.5:c.1664A= ENSP00000442167.1:p.Tyr555=
ENST00000544971.5:c.1484A= ENSP00000443611.1:p.Tyr495=
ENST00000674908.1:c.*892A= ENSP00000502012.1:n.*892A=
ENST00000675533.1:n.1836A=
ENST00000675670.1:c.1805A= ENSP00000502135.1:p.Tyr602=
ENST00000676376.1:n.1836A=
XM_005253918.1:c.1805A= XP_005253975.1:p.Tyr602=
XM_011538630.1:c.1805A= XP_011536932.1:p.Tyr602=
XM_011538630.2:c.1958A= XP_011536932.2:p.Tyr653=
XM_011538631.1:c.1664A= XP_011536933.1:p.Tyr555=
XM_011538631.2:c.1817A= XP_011536933.2:p.Tyr606=
XM_011538632.1:c.1625A= XP_011536934.1:p.Tyr542=
XM_011538632.2:c.1778A= XP_011536934.2:p.Tyr593=
XM_011538633.1:c.1484A= XP_011536935.1:p.Tyr495=
XM_011538633.2:c.1637A= XP_011536935.2:p.Tyr546=
XM_011538634.1:c.1805A= XP_011536936.1:p.Tyr602=
XM_011538634.2:c.1958A= XP_011536936.2:p.Tyr653=
XM_011538635.1:c.1958A= XP_011536937.1:p.Tyr653=
XM_011538635.2:c.1958A= XP_011536937.1:p.Tyr653=
XM_017019774.1:c.1805A= XP_016875263.1:p.Tyr602=