Canonical Allele Identifier: CA351734336

Gene: RPUSD3 TTLL3

Linked Data

• MyVariant Identifiers: chr3:g.9880841G>T (hg19) ; chr3:g.9839157G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9839157G>T , CM000665.2:g.9839157G>T	GRCh38
NC_000003.11:g.9880841G>T , CM000665.1:g.9880841G>T	GRCh37
NC_000003.10:g.9855841G>T	NCBI36
NG_054931.1:g.9862C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000383820.10:c.715C>A (RPUSD3) MANE Select	ENSP00000373331.6:p.Leu239Ile
ENST00000433535.7:c.670C>A (RPUSD3)	ENSP00000398921.3:p.Leu224Ile
ENST00000383820.9:c.739C>A (RPUSD3)	ENSP00000373331.5:p.Leu247Ile
ENST00000423108.5:c.225C>A (RPUSD3)
ENST00000424438.5:c.629-950C>A (RPUSD3)	ENSP00000408693.1:n.629-950C>A
ENST00000427174.5:c.739C>A (RPUSD3)
ENST00000433535.6:c.694C>A (RPUSD3)	ENSP00000398921.2:p.Leu232Ile
ENST00000455274.5:c.918+9762G>T (TTLL3)	ENSP00000409632.1:n.918+9762G>T
ENST00000464783.1:n.698C>A (RPUSD3)
ENST00000466141.1:n.557C>A (RPUSD3)
NM_001142547.1:c.694C>A (RPUSD3)	NP_001136019.1:p.Leu232Ile
NM_173659.3:c.739C>A (RPUSD3)	NP_775930.2:p.Leu247Ile
XM_011533627.1:c.725-950C>A (RPUSD3)	XP_011531929.1:n.725-950C>A
NM_001142547.2:c.694C>A (RPUSD3)	NP_001136019.1:p.Leu232Ile
NM_001351736.1:c.629-950C>A (RPUSD3)	NP_001338665.1:n.629-950C>A
NM_001351737.1:c.725-950C>A (RPUSD3)	NP_001338666.1:n.725-950C>A
NM_001351738.1:c.767C>A (RPUSD3)	NP_001338667.1:p.Thr256Asn
NM_173659.4:c.739C>A (RPUSD3)	NP_775930.2:p.Leu247Ile
XM_024453471.1:c.739C>A (RPUSD3)	XP_024309239.1:p.Leu247Ile
XM_024453472.1:c.724+1027C>A (RPUSD3)	XP_024309240.1:n.724+1027C>A
NM_001351736.2:c.629-950C>A (RPUSD3)	NP_001338665.1:n.629-950C>A
NM_001351736.3:c.629-950C>A (RPUSD3)	NP_001338665.1:n.629-950C>A
NM_001142547.3:c.670C>A (RPUSD3)	NP_001136019.2:p.Leu224Ile
NM_001351737.2:c.701-950C>A (RPUSD3)	NP_001338666.2:n.701-950C>A
NM_001351738.2:c.743C>A (RPUSD3)	NP_001338667.2:p.Thr248Asn
NM_173659.5:c.715C>A (RPUSD3) MANE Select	NP_775930.3:p.Leu239Ile