Canonical Allele Identifier: CA402694016

Gene: RTTN

Linked Data

• gnomAD v4: 18-70127706-A-T
• MyVariant Identifiers: chr18:g.67794942A>T (hg19) ; chr18:g.70127706A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70127706A>T , CM000680.2:g.70127706A>T	GRCh38
NC_000018.9:g.67794942A>T , CM000680.1:g.67794942A>T	GRCh37
NC_000018.8:g.65945922A>T	NCBI36
NG_033104.1:g.83021T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.3179T>A	ENSP00000255674.7:p.Ile1060Asn
ENST00000638251.1:c.*1171T>A	ENSP00000491968.1:n.*1171T>A
ENST00000638298.1:c.168T>A
ENST00000639128.1:n.725T>A
ENST00000640376.1:c.2624+652T>A	ENSP00000491654.1:n.2624+652T>A
ENST00000640408.1:n.3611T>A
ENST00000640769.2:c.3179T>A MANE Select	ENSP00000491507.1:p.Ile1060Asn
ENST00000640931.1:c.400T>A
ENST00000677824.1:c.783-6006T>A	ENSP00000504646.1:n.783-6006T>A
ENST00000679113.1:c.401T>A	ENSP00000504487.1:p.Ile134Asn
ENST00000255674.10:c.3179T>A	ENSP00000255674.6:p.Ile1060Asn
ENST00000581161.5:c.*1493T>A	ENSP00000462926.1:n.*1493T>A
ENST00000583043.5:c.2460T>A	ENSP00000462733.1:n.2460T>A
NM_173630.3:c.3179T>A	NP_775901.3:p.Ile1060Asn
XM_005266679.1:c.443T>A	XP_005266736.1:p.Ile148Asn
XM_006722434.2:c.3182T>A	XP_006722497.1:p.Ile1061Asn
XM_006722435.2:c.3182T>A	XP_006722498.1:p.Ile1061Asn
XM_011525902.1:c.3146+652T>A	XP_011524204.1:n.3146+652T>A
XM_011525903.1:c.2958-6006T>A	XP_011524205.1:n.2958-6006T>A
XM_011525904.1:c.3182T>A	XP_011524206.1:p.Ile1061Asn
XM_011525905.1:c.3182T>A	XP_011524207.1:p.Ile1061Asn
XM_011525906.1:c.1682T>A	XP_011524208.1:p.Ile561Asn
XM_011525907.1:c.3182T>A	XP_011524209.1:p.Ile1061Asn
XM_011525908.1:c.3182T>A	XP_011524210.1:p.Ile1061Asn
XR_430072.2:n.3220T>A
XR_935213.1:n.3220T>A
NM_001318520.1:c.443T>A	NP_001305449.1:p.Ile148Asn
XM_006722434.3:c.3182T>A	XP_006722497.1:p.Ile1061Asn
XM_006722435.3:c.3182T>A	XP_006722498.1:p.Ile1061Asn
XM_011525902.2:c.3146+652T>A	XP_011524204.1:n.3146+652T>A
XM_011525903.2:c.2958-6006T>A	XP_011524205.1:n.2958-6006T>A
XM_011525904.3:c.3182T>A	XP_011524206.1:p.Ile1061Asn
XM_011525905.2:c.3182T>A	XP_011524207.1:p.Ile1061Asn
XM_011525906.2:c.1682T>A	XP_011524208.1:p.Ile561Asn
XM_011525907.2:c.3182T>A	XP_011524209.1:p.Ile1061Asn
XM_011525908.3:c.3182T>A	XP_011524210.1:p.Ile1061Asn
XM_017025693.1:c.3143+652T>A	XP_016881182.1:n.3143+652T>A
XM_017025694.1:c.2540T>A	XP_016881183.1:p.Ile847Asn
XM_017025695.1:c.2117T>A	XP_016881184.1:p.Ile706Asn
XM_017025696.1:c.1073T>A	XP_016881185.1:p.Ile358Asn
XM_024451139.1:c.2402T>A	XP_024306907.1:p.Ile801Asn
XM_024451140.1:c.2402T>A	XP_024306908.1:p.Ile801Asn
XR_430072.3:n.3250T>A
XR_935213.2:n.3250T>A
NM_001318520.2:c.443T>A	NP_001305449.1:p.Ile148Asn
NM_173630.4:c.3179T>A MANE Select	NP_775901.3:p.Ile1060Asn