Canonical Allele Identifier: CA2062574701
Community Standard Title: NM_021625.5(TRPV4):c.826A= (p.Lys276=)
Gene: TRPV4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109800645T= , CM000674.2:g.109800645T= GRCh38
NC_000012.11:g.110238450T= , CM000674.1:g.110238450T= GRCh37
NC_000012.10:g.108722833T= NCBI36
NG_017090.1:g.37763A= , LRG_372:g.37763A=

Transcript Alleles

HGVS Amino-acid Change
NM_021625.5:c.826A= MANE Select NP_067638.3:p.Lys276=
ENST00000261740.7:c.826A= MANE Select ENSP00000261740.2:p.Lys276=
NM_001177428.1:c.713-1733A= NP_001170899.1:n.713-1733A=
NM_001177431.1:c.724A= NP_001170902.1:p.Lys242=
NM_001177433.1:c.713-1733A= NP_001170904.1:n.713-1733A=
NM_021625.4:c.826A= , LRG_372t1:c.826A= NP_067638.3:p.Lys276=
NM_147204.2:c.826A= NP_671737.1:p.Lys276=
ENST00000261740.6:c.826A= ENSP00000261740.2:p.Lys276=
ENST00000418703.6:c.826A= ENSP00000406191.2:p.Lys276=
ENST00000418703.7:c.826A= ENSP00000406191.2:p.Lys276=
ENST00000536838.1:c.724A= ENSP00000444336.1:p.Lys242=
ENST00000537083.5:c.826A= ENSP00000442738.1:p.Lys276=
ENST00000538125.5:c.826A= ENSP00000437449.1:p.Lys276=
ENST00000541794.5:c.713-1733A= ENSP00000442167.1:n.713-1733A=
ENST00000544971.5:c.713-1733A= ENSP00000443611.1:n.713-1733A=
ENST00000674908.1:c.855A= ENSP00000502012.1:p.Pro285=
ENST00000675533.1:n.857A=
ENST00000675670.1:c.826A= ENSP00000502135.1:p.Lys276=
ENST00000676376.1:n.857A=
XM_005253918.1:c.826A= XP_005253975.1:p.Lys276=
XM_011538630.1:c.826A= XP_011536932.1:p.Lys276=
XM_011538630.2:c.979A= XP_011536932.2:p.Lys327=
XM_011538631.1:c.713-1733A= XP_011536933.1:n.713-1733A=
XM_011538631.2:c.866-1733A= XP_011536933.2:n.866-1733A=
XM_011538632.1:c.826A= XP_011536934.1:p.Lys276=
XM_011538632.2:c.979A= XP_011536934.2:p.Lys327=
XM_011538633.1:c.713-1733A= XP_011536935.1:n.713-1733A=
XM_011538633.2:c.866-1733A= XP_011536935.2:n.866-1733A=
XM_011538634.1:c.826A= XP_011536936.1:p.Lys276=
XM_011538634.2:c.979A= XP_011536936.2:p.Lys327=
XM_011538635.1:c.979A= XP_011536937.1:p.Lys327=
XM_011538635.2:c.979A= XP_011536937.1:p.Lys327=
XM_011538636.1:c.979A= XP_011536938.1:p.Lys327=
XM_017019774.1:c.826A= XP_016875263.1:p.Lys276=