Canonical Allele Identifier: CA2573053594

Gene: TRPV4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109783687dup , CM000674.2:g.109783687dup	GRCh38
NC_000012.11:g.110221492dup , CM000674.1:g.110221492dup	GRCh37
NC_000012.10:g.108705875dup	NCBI36
NG_017090.1:g.54725dup , LRG_372:g.54725dup

Transcript Alleles

HGVS	Amino-acid Change
NM_021625.5:c.2554dup MANE Select	NP_067638.3:p.Arg852ProfsTer16
ENST00000261740.7:c.2554dup MANE Select	ENSP00000261740.2:p.Arg852ProfsTer16
NM_001177428.1:c.2413dup	NP_001170899.1:p.Arg805ProfsTer16
NM_001177431.1:c.2452dup	NP_001170902.1:p.Arg818ProfsTer16
NM_001177433.1:c.2233dup	NP_001170904.1:p.Arg745ProfsTer16
NM_021625.4:c.2554dup , LRG_372t1:c.2554dup	NP_067638.3:p.Arg852ProfsTer16
NM_147204.2:c.2374dup	NP_671737.1:p.Arg792ProfsTer16
ENST00000261740.6:c.2554dup	ENSP00000261740.2:p.Arg852ProfsTer16
ENST00000418703.6:c.2554dup	ENSP00000406191.2:p.Arg852ProfsTer16
ENST00000418703.7:c.2554dup	ENSP00000406191.2:p.Arg852ProfsTer16
ENST00000536838.1:c.2452dup	ENSP00000444336.1:p.Arg818ProfsTer16
ENST00000537083.5:c.2374dup	ENSP00000442738.1:p.Arg792ProfsTer16
ENST00000538125.5:c.*937dup	ENSP00000437449.1:n.*937dup
ENST00000541794.5:c.2413dup	ENSP00000442167.1:p.Arg805ProfsTer16
ENST00000544971.5:c.2233dup	ENSP00000443611.1:p.Arg745ProfsTer16
ENST00000674908.1:c.*1641dup	ENSP00000502012.1:n.*1641dup
ENST00000675670.1:c.2554dup	ENSP00000502135.1:p.Arg852ProfsTer16
XM_005253918.1:c.2554dup	XP_005253975.1:p.Arg852ProfsTer16
XM_011538630.1:c.2554dup	XP_011536932.1:p.Arg852ProfsTer16
XM_011538630.2:c.2707dup	XP_011536932.2:p.Arg903ProfsTer16
XM_011538631.1:c.2413dup	XP_011536933.1:p.Arg805ProfsTer16
XM_011538631.2:c.2566dup	XP_011536933.2:p.Arg856ProfsTer16
XM_011538632.1:c.2374dup	XP_011536934.1:p.Arg792ProfsTer16
XM_011538632.2:c.2527dup	XP_011536934.2:p.Arg843ProfsTer16
XM_011538633.1:c.2233dup	XP_011536935.1:p.Arg745ProfsTer16
XM_011538633.2:c.2386dup	XP_011536935.2:p.Arg796ProfsTer16
XM_017019774.1:c.2554dup	XP_016875263.1:p.Arg852ProfsTer16