Canonical Allele Identifier: CA402693501

Gene: RTTN

Linked Data

• gnomAD v4: 18-70127605-T-A
• MyVariant Identifiers: chr18:g.67794841T>A (hg19) ; chr18:g.70127605T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70127605T>A , CM000680.2:g.70127605T>A	GRCh38
NC_000018.9:g.67794841T>A , CM000680.1:g.67794841T>A	GRCh37
NC_000018.8:g.65945821T>A	NCBI36
NG_033104.1:g.83122A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.3280A>T	ENSP00000255674.7:p.Arg1094Trp
ENST00000638251.1:c.*1272A>T	ENSP00000491968.1:n.*1272A>T
ENST00000638298.1:c.269A>T
ENST00000639128.1:n.826A>T
ENST00000640376.1:c.2624+753A>T	ENSP00000491654.1:n.2624+753A>T
ENST00000640408.1:n.3712A>T
ENST00000640769.2:c.3280A>T MANE Select	ENSP00000491507.1:p.Arg1094Trp
ENST00000640931.1:c.501A>T
ENST00000677824.1:c.783-5905A>T	ENSP00000504646.1:n.783-5905A>T
ENST00000679113.1:c.502A>T	ENSP00000504487.1:p.Arg168Trp
ENST00000255674.10:c.3280A>T	ENSP00000255674.6:p.Arg1094Trp
ENST00000581161.5:c.*1594A>T	ENSP00000462926.1:n.*1594A>T
ENST00000583043.5:c.2561A>T	ENSP00000462733.1:n.2561A>T
NM_173630.3:c.3280A>T	NP_775901.3:p.Arg1094Trp
XM_005266679.1:c.544A>T	XP_005266736.1:p.Arg182Trp
XM_006722434.2:c.3283A>T	XP_006722497.1:p.Arg1095Trp
XM_006722435.2:c.3283A>T	XP_006722498.1:p.Arg1095Trp
XM_011525902.1:c.3146+753A>T	XP_011524204.1:n.3146+753A>T
XM_011525903.1:c.2958-5905A>T	XP_011524205.1:n.2958-5905A>T
XM_011525904.1:c.3283A>T	XP_011524206.1:p.Arg1095Trp
XM_011525905.1:c.3283A>T	XP_011524207.1:p.Arg1095Trp
XM_011525906.1:c.1783A>T	XP_011524208.1:p.Arg595Trp
XM_011525907.1:c.3283A>T	XP_011524209.1:p.Arg1095Trp
XM_011525908.1:c.3283A>T	XP_011524210.1:p.Arg1095Trp
XR_430072.2:n.3321A>T
XR_935213.1:n.3321A>T
NM_001318520.1:c.544A>T	NP_001305449.1:p.Arg182Trp
XM_006722434.3:c.3283A>T	XP_006722497.1:p.Arg1095Trp
XM_006722435.3:c.3283A>T	XP_006722498.1:p.Arg1095Trp
XM_011525902.2:c.3146+753A>T	XP_011524204.1:n.3146+753A>T
XM_011525903.2:c.2958-5905A>T	XP_011524205.1:n.2958-5905A>T
XM_011525904.3:c.3283A>T	XP_011524206.1:p.Arg1095Trp
XM_011525905.2:c.3283A>T	XP_011524207.1:p.Arg1095Trp
XM_011525906.2:c.1783A>T	XP_011524208.1:p.Arg595Trp
XM_011525907.2:c.3283A>T	XP_011524209.1:p.Arg1095Trp
XM_011525908.3:c.3283A>T	XP_011524210.1:p.Arg1095Trp
XM_017025693.1:c.3143+753A>T	XP_016881182.1:n.3143+753A>T
XM_017025694.1:c.2641A>T	XP_016881183.1:p.Arg881Trp
XM_017025695.1:c.2218A>T	XP_016881184.1:p.Arg740Trp
XM_017025696.1:c.1174A>T	XP_016881185.1:p.Arg392Trp
XM_024451139.1:c.2503A>T	XP_024306907.1:p.Arg835Trp
XM_024451140.1:c.2503A>T	XP_024306908.1:p.Arg835Trp
XR_430072.3:n.3351A>T
XR_935213.2:n.3351A>T
NM_001318520.2:c.544A>T	NP_001305449.1:p.Arg182Trp
NM_173630.4:c.3280A>T MANE Select	NP_775901.3:p.Arg1094Trp