Canonical Allele Identifier: CA2062560497

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109788462C= , CM000674.2:g.109788462C=	GRCh38
NC_000012.11:g.110226267C= , CM000674.1:g.110226267C=	GRCh37
NC_000012.10:g.108710650C=	NCBI36
NG_017090.1:g.49946G= , LRG_372:g.49946G=

Transcript Alleles

HGVS	Amino-acid Change
NM_021625.5:c.2146G= MANE Select	NP_067638.3:p.Ala716=
ENST00000261740.7:c.2146G= MANE Select	ENSP00000261740.2:p.Ala716=
NM_001177428.1:c.2005G=	NP_001170899.1:p.Ala669=
NM_001177431.1:c.2044G=	NP_001170902.1:p.Ala682=
NM_001177433.1:c.1825G=	NP_001170904.1:p.Ala609=
NM_021625.4:c.2146G= , LRG_372t1:c.2146G=	NP_067638.3:p.Ala716=
NM_147204.2:c.1966G=	NP_671737.1:p.Ala656=
ENST00000261740.6:c.2146G=	ENSP00000261740.2:p.Ala716=
ENST00000418703.6:c.2146G=	ENSP00000406191.2:p.Ala716=
ENST00000418703.7:c.2146G=	ENSP00000406191.2:p.Ala716=
ENST00000536838.1:c.2044G=	ENSP00000444336.1:p.Ala682=
ENST00000537083.5:c.1966G=	ENSP00000442738.1:p.Ala656=
ENST00000538125.5:c.*529G=	ENSP00000437449.1:n.*529G=
ENST00000541794.5:c.2005G=	ENSP00000442167.1:p.Ala669=
ENST00000544971.5:c.1825G=	ENSP00000443611.1:p.Ala609=
ENST00000674908.1:c.*1233G=	ENSP00000502012.1:n.*1233G=
ENST00000675533.1:n.2177G=
ENST00000675670.1:c.2146G=	ENSP00000502135.1:p.Ala716=
XM_005253918.1:c.2146G=	XP_005253975.1:p.Ala716=
XM_011538630.1:c.2146G=	XP_011536932.1:p.Ala716=
XM_011538630.2:c.2299G=	XP_011536932.2:p.Ala767=
XM_011538631.1:c.2005G=	XP_011536933.1:p.Ala669=
XM_011538631.2:c.2158G=	XP_011536933.2:p.Ala720=
XM_011538632.1:c.1966G=	XP_011536934.1:p.Ala656=
XM_011538632.2:c.2119G=	XP_011536934.2:p.Ala707=
XM_011538633.1:c.1825G=	XP_011536935.1:p.Ala609=
XM_011538633.2:c.1978G=	XP_011536935.2:p.Ala660=
XM_011538634.1:c.2146G=	XP_011536936.1:p.Ala716=
XM_011538634.2:c.2299G=	XP_011536936.2:p.Ala767=
XM_017019774.1:c.2146G=	XP_016875263.1:p.Ala716=