Canonical Allele Identifier: CA2245075

Gene: RPUSD3 TTLL3

Linked Data

• dbSNP Id: rs202088564
• ExAC: 3:9880826 C / A
• gnomAD v2: 3-9880826-C-A
• MyVariant Identifiers: chr3:g.9880826C>A (hg19) ; chr3:g.9839142C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9839142C>A , CM000665.2:g.9839142C>A	GRCh38
NC_000003.11:g.9880826C>A , CM000665.1:g.9880826C>A	GRCh37
NC_000003.10:g.9855826C>A	NCBI36
NG_054931.1:g.9877G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383820.10:c.730G>T (RPUSD3) MANE Select	ENSP00000373331.6:p.Val244Leu
ENST00000433535.7:c.685G>T (RPUSD3)	ENSP00000398921.3:p.Val229Leu
ENST00000383820.9:c.754G>T (RPUSD3)	ENSP00000373331.5:p.Val252Leu
ENST00000423108.5:c.240G>T (RPUSD3)
ENST00000424438.5:c.629-935G>T (RPUSD3)	ENSP00000408693.1:n.629-935G>T
ENST00000427174.5:c.754G>T (RPUSD3)
ENST00000433535.6:c.709G>T (RPUSD3)	ENSP00000398921.2:p.Val237Leu
ENST00000455274.5:c.918+9747C>A (TTLL3)	ENSP00000409632.1:n.918+9747C>A
ENST00000464783.1:n.713G>T (RPUSD3)
ENST00000466141.1:n.572G>T (RPUSD3)
NM_001142547.1:c.709G>T (RPUSD3)	NP_001136019.1:p.Val237Leu
NM_173659.3:c.754G>T (RPUSD3)	NP_775930.2:p.Val252Leu
XM_011533627.1:c.725-935G>T (RPUSD3)	XP_011531929.1:n.725-935G>T
NM_001142547.2:c.709G>T (RPUSD3)	NP_001136019.1:p.Val237Leu
NM_001351736.1:c.629-935G>T (RPUSD3)	NP_001338665.1:n.629-935G>T
NM_001351737.1:c.725-935G>T (RPUSD3)	NP_001338666.1:n.725-935G>T
NM_001351738.1:c.782G>T (RPUSD3)	NP_001338667.1:p.Gly261Val
NM_173659.4:c.754G>T (RPUSD3)	NP_775930.2:p.Val252Leu
XM_024453471.1:c.754G>T (RPUSD3)	XP_024309239.1:p.Val252Leu
XM_024453472.1:c.724+1042G>T (RPUSD3)	XP_024309240.1:n.724+1042G>T
NM_001351736.2:c.629-935G>T (RPUSD3)	NP_001338665.1:n.629-935G>T
NM_001351736.3:c.629-935G>T (RPUSD3)	NP_001338665.1:n.629-935G>T
NM_001142547.3:c.685G>T (RPUSD3)	NP_001136019.2:p.Val229Leu
NM_001351737.2:c.701-935G>T (RPUSD3)	NP_001338666.2:n.701-935G>T
NM_001351738.2:c.758G>T (RPUSD3)	NP_001338667.2:p.Gly253Val
NM_173659.5:c.730G>T (RPUSD3) MANE Select	NP_775930.3:p.Val244Leu