Canonical Allele Identifier: CA386648760

Gene: TRPV4

Linked Data

• MyVariant Identifiers: chr12:g.110222160A>C (hg19) ; chr12:g.109784355A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109784355A>C , CM000674.2:g.109784355A>C	GRCh38
NC_000012.11:g.110222160A>C , CM000674.1:g.110222160A>C	GRCh37
NC_000012.10:g.108706543A>C	NCBI36
NG_017090.1:g.54053T>G , LRG_372:g.54053T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261740.7:c.2419T>G MANE Select	ENSP00000261740.2:p.Tyr807Asp
ENST00000418703.7:c.2419T>G	ENSP00000406191.2:p.Tyr807Asp
ENST00000674908.1:c.*1506T>G	ENSP00000502012.1:n.*1506T>G
ENST00000675670.1:c.2419T>G	ENSP00000502135.1:p.Tyr807Asp
ENST00000261740.6:c.2419T>G	ENSP00000261740.2:p.Tyr807Asp
ENST00000418703.6:c.2419T>G	ENSP00000406191.2:p.Tyr807Asp
ENST00000536838.1:c.2317T>G	ENSP00000444336.1:p.Tyr773Asp
ENST00000537083.5:c.2239T>G	ENSP00000442738.1:p.Tyr747Asp
ENST00000538125.5:c.*802T>G	ENSP00000437449.1:n.*802T>G
ENST00000541794.5:c.2278T>G	ENSP00000442167.1:p.Tyr760Asp
ENST00000544971.5:c.2098T>G	ENSP00000443611.1:p.Tyr700Asp
NM_001177428.1:c.2278T>G	NP_001170899.1:p.Tyr760Asp
NM_001177431.1:c.2317T>G	NP_001170902.1:p.Tyr773Asp
NM_001177433.1:c.2098T>G	NP_001170904.1:p.Tyr700Asp
NM_021625.4:c.2419T>G , LRG_372t1:c.2419T>G	NP_067638.3:p.Tyr807Asp
NM_147204.2:c.2239T>G	NP_671737.1:p.Tyr747Asp
XM_005253918.1:c.2419T>G	XP_005253975.1:p.Tyr807Asp
XM_011538630.1:c.2419T>G	XP_011536932.1:p.Tyr807Asp
XM_011538631.1:c.2278T>G	XP_011536933.1:p.Tyr760Asp
XM_011538632.1:c.2239T>G	XP_011536934.1:p.Tyr747Asp
XM_011538633.1:c.2098T>G	XP_011536935.1:p.Tyr700Asp
XM_011538630.2:c.2572T>G	XP_011536932.2:p.Tyr858Asp
XM_011538631.2:c.2431T>G	XP_011536933.2:p.Tyr811Asp
XM_011538632.2:c.2392T>G	XP_011536934.2:p.Tyr798Asp
XM_011538633.2:c.2251T>G	XP_011536935.2:p.Tyr751Asp
XM_017019774.1:c.2419T>G	XP_016875263.1:p.Tyr807Asp
NM_021625.5:c.2419T>G MANE Select	NP_067638.3:p.Tyr807Asp