Canonical Allele Identifier: CA386652108
Community Standard Title: NM_021625.5(TRPV4):c.1799G>A (p.Gly600Glu)
Gene: TRPV4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109792677C>T , CM000674.2:g.109792677C>T GRCh38
NC_000012.11:g.110230482C>T , CM000674.1:g.110230482C>T GRCh37
NC_000012.10:g.108714865C>T NCBI36
NG_017090.1:g.45731G>A , LRG_372:g.45731G>A

Transcript Alleles

HGVS Amino-acid Change
NM_021625.5:c.1799G>A MANE Select NP_067638.3:p.Gly600Glu
ENST00000261740.7:c.1799G>A MANE Select ENSP00000261740.2:p.Gly600Glu
NM_001177428.1:c.1658G>A NP_001170899.1:p.Gly553Glu
NM_001177431.1:c.1697G>A NP_001170902.1:p.Gly566Glu
NM_001177433.1:c.1478G>A NP_001170904.1:p.Gly493Glu
NM_021625.4:c.1799G>A , LRG_372t1:c.1799G>A NP_067638.3:p.Gly600Glu
NM_147204.2:c.1619G>A NP_671737.1:p.Gly540Glu
ENST00000261740.6:c.1799G>A ENSP00000261740.2:p.Gly600Glu
ENST00000418703.6:c.1799G>A ENSP00000406191.2:p.Gly600Glu
ENST00000418703.7:c.1799G>A ENSP00000406191.2:p.Gly600Glu
ENST00000536838.1:c.1697G>A ENSP00000444336.1:p.Gly566Glu
ENST00000537083.5:c.1619G>A ENSP00000442738.1:p.Gly540Glu
ENST00000538125.5:c.*182G>A ENSP00000437449.1:n.*182G>A
ENST00000541794.5:c.1658G>A ENSP00000442167.1:p.Gly553Glu
ENST00000544971.5:c.1478G>A ENSP00000443611.1:p.Gly493Glu
ENST00000674908.1:c.*886G>A ENSP00000502012.1:n.*886G>A
ENST00000675533.1:n.1830G>A
ENST00000675670.1:c.1799G>A ENSP00000502135.1:p.Gly600Glu
ENST00000676376.1:n.1830G>A
XM_005253918.1:c.1799G>A XP_005253975.1:p.Gly600Glu
XM_011538630.1:c.1799G>A XP_011536932.1:p.Gly600Glu
XM_011538630.2:c.1952G>A XP_011536932.2:p.Gly651Glu
XM_011538631.1:c.1658G>A XP_011536933.1:p.Gly553Glu
XM_011538631.2:c.1811G>A XP_011536933.2:p.Gly604Glu
XM_011538632.1:c.1619G>A XP_011536934.1:p.Gly540Glu
XM_011538632.2:c.1772G>A XP_011536934.2:p.Gly591Glu
XM_011538633.1:c.1478G>A XP_011536935.1:p.Gly493Glu
XM_011538633.2:c.1631G>A XP_011536935.2:p.Gly544Glu
XM_011538634.1:c.1799G>A XP_011536936.1:p.Gly600Glu
XM_011538634.2:c.1952G>A XP_011536936.2:p.Gly651Glu
XM_011538635.1:c.1952G>A XP_011536937.1:p.Gly651Glu
XM_011538635.2:c.1952G>A XP_011536937.1:p.Gly651Glu
XM_017019774.1:c.1799G>A XP_016875263.1:p.Gly600Glu