Canonical Allele Identifier: CA2062557944
Community Standard Title: NM_021625.5(TRPV4):c.2395C= (p.Pro799=)
Gene: TRPV4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109784379G= , CM000674.2:g.109784379G= GRCh38
NC_000012.11:g.110222184G= , CM000674.1:g.110222184G= GRCh37
NC_000012.10:g.108706567G= NCBI36
NG_017090.1:g.54029C= , LRG_372:g.54029C=

Transcript Alleles

HGVS Amino-acid Change
NM_021625.5:c.2395C= MANE Select NP_067638.3:p.Pro799=
ENST00000261740.7:c.2395C= MANE Select ENSP00000261740.2:p.Pro799=
NM_001177428.1:c.2254C= NP_001170899.1:p.Pro752=
NM_001177431.1:c.2293C= NP_001170902.1:p.Pro765=
NM_001177433.1:c.2074C= NP_001170904.1:p.Pro692=
NM_021625.4:c.2395C= , LRG_372t1:c.2395C= NP_067638.3:p.Pro799=
NM_147204.2:c.2215C= NP_671737.1:p.Pro739=
ENST00000261740.6:c.2395C= ENSP00000261740.2:p.Pro799=
ENST00000418703.6:c.2395C= ENSP00000406191.2:p.Pro799=
ENST00000418703.7:c.2395C= ENSP00000406191.2:p.Pro799=
ENST00000536838.1:c.2293C= ENSP00000444336.1:p.Pro765=
ENST00000537083.5:c.2215C= ENSP00000442738.1:p.Pro739=
ENST00000538125.5:c.*778C= ENSP00000437449.1:n.*778C=
ENST00000541794.5:c.2254C= ENSP00000442167.1:p.Pro752=
ENST00000544971.5:c.2074C= ENSP00000443611.1:p.Pro692=
ENST00000674908.1:c.*1482C= ENSP00000502012.1:n.*1482C=
ENST00000675670.1:c.2395C= ENSP00000502135.1:p.Pro799=
XM_005253918.1:c.2395C= XP_005253975.1:p.Pro799=
XM_011538630.1:c.2395C= XP_011536932.1:p.Pro799=
XM_011538630.2:c.2548C= XP_011536932.2:p.Pro850=
XM_011538631.1:c.2254C= XP_011536933.1:p.Pro752=
XM_011538631.2:c.2407C= XP_011536933.2:p.Pro803=
XM_011538632.1:c.2215C= XP_011536934.1:p.Pro739=
XM_011538632.2:c.2368C= XP_011536934.2:p.Pro790=
XM_011538633.1:c.2074C= XP_011536935.1:p.Pro692=
XM_011538633.2:c.2227C= XP_011536935.2:p.Pro743=
XM_017019774.1:c.2395C= XP_016875263.1:p.Pro799=