Canonical Allele Identifier: CA386649222

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109786722C>T , CM000674.2:g.109786722C>T	GRCh38
NC_000012.11:g.110224527C>T , CM000674.1:g.110224527C>T	GRCh37
NC_000012.10:g.108708910C>T	NCBI36
NG_017090.1:g.51686G>A , LRG_372:g.51686G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021625.5:c.2324G>A MANE Select	NP_067638.3:p.Arg775Lys
ENST00000261740.7:c.2324G>A MANE Select	ENSP00000261740.2:p.Arg775Lys
NM_001177428.1:c.2183G>A	NP_001170899.1:p.Arg728Lys
NM_001177431.1:c.2222G>A	NP_001170902.1:p.Arg741Lys
NM_001177433.1:c.2003G>A	NP_001170904.1:p.Arg668Lys
NM_021625.4:c.2324G>A , LRG_372t1:c.2324G>A	NP_067638.3:p.Arg775Lys
NM_147204.2:c.2144G>A	NP_671737.1:p.Arg715Lys
ENST00000261740.6:c.2324G>A	ENSP00000261740.2:p.Arg775Lys
ENST00000418703.6:c.2324G>A	ENSP00000406191.2:p.Arg775Lys
ENST00000418703.7:c.2324G>A	ENSP00000406191.2:p.Arg775Lys
ENST00000536838.1:c.2222G>A	ENSP00000444336.1:p.Arg741Lys
ENST00000537083.5:c.2144G>A	ENSP00000442738.1:p.Arg715Lys
ENST00000538125.5:c.*707G>A	ENSP00000437449.1:n.*707G>A
ENST00000541794.5:c.2183G>A	ENSP00000442167.1:p.Arg728Lys
ENST00000544971.5:c.2003G>A	ENSP00000443611.1:p.Arg668Lys
ENST00000674908.1:c.*1411G>A	ENSP00000502012.1:n.*1411G>A
ENST00000675670.1:c.2324G>A	ENSP00000502135.1:p.Arg775Lys
XM_005253918.1:c.2324G>A	XP_005253975.1:p.Arg775Lys
XM_011538630.1:c.2324G>A	XP_011536932.1:p.Arg775Lys
XM_011538630.2:c.2477G>A	XP_011536932.2:p.Arg826Lys
XM_011538631.1:c.2183G>A	XP_011536933.1:p.Arg728Lys
XM_011538631.2:c.2336G>A	XP_011536933.2:p.Arg779Lys
XM_011538632.1:c.2144G>A	XP_011536934.1:p.Arg715Lys
XM_011538632.2:c.2297G>A	XP_011536934.2:p.Arg766Lys
XM_011538633.1:c.2003G>A	XP_011536935.1:p.Arg668Lys
XM_011538633.2:c.2156G>A	XP_011536935.2:p.Arg719Lys
XM_017019774.1:c.2324G>A	XP_016875263.1:p.Arg775Lys