Canonical Allele Identifier: CA351734149

Gene: RPUSD3 TTLL3

Linked Data

• MyVariant Identifiers: chr3:g.9880817G>C (hg19) ; chr3:g.9839133G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9839133G>C , CM000665.2:g.9839133G>C	GRCh38
NC_000003.11:g.9880817G>C , CM000665.1:g.9880817G>C	GRCh37
NC_000003.10:g.9855817G>C	NCBI36
NG_054931.1:g.9886C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383820.10:c.739C>G (RPUSD3) MANE Select	ENSP00000373331.6:p.Leu247Val
ENST00000433535.7:c.694C>G (RPUSD3)	ENSP00000398921.3:p.Leu232Val
ENST00000383820.9:c.763C>G (RPUSD3)	ENSP00000373331.5:p.Leu255Val
ENST00000423108.5:c.249C>G (RPUSD3)
ENST00000424438.5:c.629-926C>G (RPUSD3)	ENSP00000408693.1:n.629-926C>G
ENST00000427174.5:c.763C>G (RPUSD3)
ENST00000433535.6:c.718C>G (RPUSD3)	ENSP00000398921.2:p.Leu240Val
ENST00000455274.5:c.918+9738G>C (TTLL3)	ENSP00000409632.1:n.918+9738G>C
ENST00000464783.1:n.722C>G (RPUSD3)
ENST00000466141.1:n.581C>G (RPUSD3)
NM_001142547.1:c.718C>G (RPUSD3)	NP_001136019.1:p.Leu240Val
NM_173659.3:c.763C>G (RPUSD3)	NP_775930.2:p.Leu255Val
XM_011533627.1:c.725-926C>G (RPUSD3)	XP_011531929.1:n.725-926C>G
NM_001142547.2:c.718C>G (RPUSD3)	NP_001136019.1:p.Leu240Val
NM_001351736.1:c.629-926C>G (RPUSD3)	NP_001338665.1:n.629-926C>G
NM_001351737.1:c.725-926C>G (RPUSD3)	NP_001338666.1:n.725-926C>G
NM_001351738.1:c.791C>G (RPUSD3)	NP_001338667.1:p.Ala264Gly
NM_173659.4:c.763C>G (RPUSD3)	NP_775930.2:p.Leu255Val
XM_024453471.1:c.763C>G (RPUSD3)	XP_024309239.1:p.Leu255Val
XM_024453472.1:c.724+1051C>G (RPUSD3)	XP_024309240.1:n.724+1051C>G
NM_001351736.2:c.629-926C>G (RPUSD3)	NP_001338665.1:n.629-926C>G
NM_001351736.3:c.629-926C>G (RPUSD3)	NP_001338665.1:n.629-926C>G
NM_001142547.3:c.694C>G (RPUSD3)	NP_001136019.2:p.Leu232Val
NM_001351737.2:c.701-926C>G (RPUSD3)	NP_001338666.2:n.701-926C>G
NM_001351738.2:c.767C>G (RPUSD3)	NP_001338667.2:p.Ala256Gly
NM_173659.5:c.739C>G (RPUSD3) MANE Select	NP_775930.3:p.Leu247Val