Canonical Allele Identifier: CA402694011

Gene: RTTN

Linked Data

• MyVariant Identifiers: chr18:g.67794940G>C (hg19) ; chr18:g.70127704G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70127704G>C , CM000680.2:g.70127704G>C	GRCh38
NC_000018.9:g.67794940G>C , CM000680.1:g.67794940G>C	GRCh37
NC_000018.8:g.65945920G>C	NCBI36
NG_033104.1:g.83023C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.3181C>G	ENSP00000255674.7:p.Leu1061Val
ENST00000638251.1:c.*1173C>G	ENSP00000491968.1:n.*1173C>G
ENST00000638298.1:c.170C>G
ENST00000639128.1:n.727C>G
ENST00000640376.1:c.2624+654C>G	ENSP00000491654.1:n.2624+654C>G
ENST00000640408.1:n.3613C>G
ENST00000640769.2:c.3181C>G MANE Select	ENSP00000491507.1:p.Leu1061Val
ENST00000640931.1:c.402C>G
ENST00000677824.1:c.783-6004C>G	ENSP00000504646.1:n.783-6004C>G
ENST00000679113.1:c.403C>G	ENSP00000504487.1:p.Leu135Val
ENST00000255674.10:c.3181C>G	ENSP00000255674.6:p.Leu1061Val
ENST00000581161.5:c.*1495C>G	ENSP00000462926.1:n.*1495C>G
ENST00000583043.5:c.2462C>G	ENSP00000462733.1:n.2462C>G
NM_173630.3:c.3181C>G	NP_775901.3:p.Leu1061Val
XM_005266679.1:c.445C>G	XP_005266736.1:p.Leu149Val
XM_006722434.2:c.3184C>G	XP_006722497.1:p.Leu1062Val
XM_006722435.2:c.3184C>G	XP_006722498.1:p.Leu1062Val
XM_011525902.1:c.3146+654C>G	XP_011524204.1:n.3146+654C>G
XM_011525903.1:c.2958-6004C>G	XP_011524205.1:n.2958-6004C>G
XM_011525904.1:c.3184C>G	XP_011524206.1:p.Leu1062Val
XM_011525905.1:c.3184C>G	XP_011524207.1:p.Leu1062Val
XM_011525906.1:c.1684C>G	XP_011524208.1:p.Leu562Val
XM_011525907.1:c.3184C>G	XP_011524209.1:p.Leu1062Val
XM_011525908.1:c.3184C>G	XP_011524210.1:p.Leu1062Val
XR_430072.2:n.3222C>G
XR_935213.1:n.3222C>G
NM_001318520.1:c.445C>G	NP_001305449.1:p.Leu149Val
XM_006722434.3:c.3184C>G	XP_006722497.1:p.Leu1062Val
XM_006722435.3:c.3184C>G	XP_006722498.1:p.Leu1062Val
XM_011525902.2:c.3146+654C>G	XP_011524204.1:n.3146+654C>G
XM_011525903.2:c.2958-6004C>G	XP_011524205.1:n.2958-6004C>G
XM_011525904.3:c.3184C>G	XP_011524206.1:p.Leu1062Val
XM_011525905.2:c.3184C>G	XP_011524207.1:p.Leu1062Val
XM_011525906.2:c.1684C>G	XP_011524208.1:p.Leu562Val
XM_011525907.2:c.3184C>G	XP_011524209.1:p.Leu1062Val
XM_011525908.3:c.3184C>G	XP_011524210.1:p.Leu1062Val
XM_017025693.1:c.3143+654C>G	XP_016881182.1:n.3143+654C>G
XM_017025694.1:c.2542C>G	XP_016881183.1:p.Leu848Val
XM_017025695.1:c.2119C>G	XP_016881184.1:p.Leu707Val
XM_017025696.1:c.1075C>G	XP_016881185.1:p.Leu359Val
XM_024451139.1:c.2404C>G	XP_024306907.1:p.Leu802Val
XM_024451140.1:c.2404C>G	XP_024306908.1:p.Leu802Val
XR_430072.3:n.3252C>G
XR_935213.2:n.3252C>G
NM_001318520.2:c.445C>G	NP_001305449.1:p.Leu149Val
NM_173630.4:c.3181C>G MANE Select	NP_775901.3:p.Leu1061Val