Canonical Allele Identifier: CA2062559321

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109786716C= , CM000674.2:g.109786716C=	GRCh38
NC_000012.11:g.110224521C= , CM000674.1:g.110224521C=	GRCh37
NC_000012.10:g.108708904C=	NCBI36
NG_017090.1:g.51692G= , LRG_372:g.51692G=

Transcript Alleles

HGVS	Amino-acid Change
NM_021625.5:c.2330G= MANE Select	NP_067638.3:p.Cys777=
ENST00000261740.7:c.2330G= MANE Select	ENSP00000261740.2:p.Cys777=
NM_001177428.1:c.2189G=	NP_001170899.1:p.Cys730=
NM_001177431.1:c.2228G=	NP_001170902.1:p.Cys743=
NM_001177433.1:c.2009G=	NP_001170904.1:p.Cys670=
NM_021625.4:c.2330G= , LRG_372t1:c.2330G=	NP_067638.3:p.Cys777=
NM_147204.2:c.2150G=	NP_671737.1:p.Cys717=
ENST00000261740.6:c.2330G=	ENSP00000261740.2:p.Cys777=
ENST00000418703.6:c.2330G=	ENSP00000406191.2:p.Cys777=
ENST00000418703.7:c.2330G=	ENSP00000406191.2:p.Cys777=
ENST00000536838.1:c.2228G=	ENSP00000444336.1:p.Cys743=
ENST00000537083.5:c.2150G=	ENSP00000442738.1:p.Cys717=
ENST00000538125.5:c.*713G=	ENSP00000437449.1:n.*713G=
ENST00000541794.5:c.2189G=	ENSP00000442167.1:p.Cys730=
ENST00000544971.5:c.2009G=	ENSP00000443611.1:p.Cys670=
ENST00000674908.1:c.*1417G=	ENSP00000502012.1:n.*1417G=
ENST00000675670.1:c.2330G=	ENSP00000502135.1:p.Cys777=
XM_005253918.1:c.2330G=	XP_005253975.1:p.Cys777=
XM_011538630.1:c.2330G=	XP_011536932.1:p.Cys777=
XM_011538630.2:c.2483G=	XP_011536932.2:p.Cys828=
XM_011538631.1:c.2189G=	XP_011536933.1:p.Cys730=
XM_011538631.2:c.2342G=	XP_011536933.2:p.Cys781=
XM_011538632.1:c.2150G=	XP_011536934.1:p.Cys717=
XM_011538632.2:c.2303G=	XP_011536934.2:p.Cys768=
XM_011538633.1:c.2009G=	XP_011536935.1:p.Cys670=
XM_011538633.2:c.2162G=	XP_011536935.2:p.Cys721=
XM_017019774.1:c.2330G=	XP_016875263.1:p.Cys777=