Canonical Allele Identifier: CA202678

Gene: RTTN

Linked Data

• ClinVar Variation Id: 197052
• ClinVar RCV Id: RCV000177962 ; RCV000515038 ; RCV002516761 ; RCV003977457
• dbSNP Id: rs35374168
• ExAC: 18:67721409 T / C
• gnomAD v2: 18-67721409-T-C
• gnomAD v3: 18-70054173-T-C
• gnomAD v4: 18-70054173-T-C
• MyVariant Identifiers: chr18:g.67721409T>C (hg19) ; chr18:g.70054173T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70054173T>C , CM000680.2:g.70054173T>C	GRCh38
NC_000018.9:g.67721409T>C , CM000680.1:g.67721409T>C	GRCh37
NC_000018.8:g.65872389T>C	NCBI36
NG_033104.1:g.156554A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255674.11:c.5143A>G	ENSP00000255674.7:p.Asn1715Asp
ENST00000579986.6:c.1230A>G	ENSP00000491518.1:n.1230A>G
ENST00000639128.1:n.2689A>G
ENST00000639487.1:c.297A>G
ENST00000640769.2:c.5143A>G MANE Select	ENSP00000491507.1:p.Asn1715Asp
ENST00000677824.1:c.2542A>G	ENSP00000504646.1:p.Asn848Asp
ENST00000679113.1:c.2564A>G	ENSP00000504487.1:n.2564A>G
ENST00000255674.10:c.5143A>G	ENSP00000255674.6:p.Asn1715Asp
ENST00000581161.5:c.*3457A>G	ENSP00000462926.1:n.*3457A>G
ENST00000583043.5:c.4424A>G	ENSP00000462733.1:n.4424A>G
NM_173630.3:c.5143A>G	NP_775901.3:p.Asn1715Asp
XM_005266679.1:c.2407A>G	XP_005266736.1:p.Asn803Asp
XM_006722434.2:c.5146A>G	XP_006722497.1:p.Asn1716Asp
XM_006722435.2:c.5146A>G	XP_006722498.1:p.Asn1716Asp
XM_011525902.1:c.4906A>G	XP_011524204.1:p.Asn1636Asp
XM_011525903.1:c.4717A>G	XP_011524205.1:p.Asn1573Asp
XM_011525904.1:c.5146A>G	XP_011524206.1:p.Asn1716Asp
XM_011525905.1:c.5146A>G	XP_011524207.1:p.Asn1716Asp
XM_011525906.1:c.3646A>G	XP_011524208.1:p.Asn1216Asp
XR_430072.2:n.5184A>G
NM_001318520.1:c.2407A>G	NP_001305449.1:p.Asn803Asp
XM_006722434.3:c.5146A>G	XP_006722497.1:p.Asn1716Asp
XM_006722435.3:c.5146A>G	XP_006722498.1:p.Asn1716Asp
XM_011525902.2:c.4906A>G	XP_011524204.1:p.Asn1636Asp
XM_011525903.2:c.4717A>G	XP_011524205.1:p.Asn1573Asp
XM_011525904.3:c.5146A>G	XP_011524206.1:p.Asn1716Asp
XM_011525905.2:c.5146A>G	XP_011524207.1:p.Asn1716Asp
XM_011525906.2:c.3646A>G	XP_011524208.1:p.Asn1216Asp
XM_017025693.1:c.4903A>G	XP_016881182.1:p.Asn1635Asp
XM_017025694.1:c.4504A>G	XP_016881183.1:p.Asn1502Asp
XM_017025695.1:c.4081A>G	XP_016881184.1:p.Asn1361Asp
XM_017025696.1:c.3037A>G	XP_016881185.1:p.Asn1013Asp
XM_024451139.1:c.4366A>G	XP_024306907.1:p.Asn1456Asp
XM_024451140.1:c.4366A>G	XP_024306908.1:p.Asn1456Asp
XR_430072.3:n.5214A>G
NM_001318520.2:c.2407A>G	NP_001305449.1:p.Asn803Asp
NM_173630.4:c.5143A>G MANE Select	NP_775901.3:p.Asn1715Asp