Canonical Allele Identifier: CA279954
Gene: RTTN HGNC NCBI

Linked Data

ClinVar Variation Id: 219185
dbSNP Id: rs864321621

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.70127695T>G , CM000680.2:g.70127695T>G GRCh38
NC_000018.9:g.67794931T>G , CM000680.1:g.67794931T>G GRCh37
NC_000018.8:g.65945911T>G NCBI36
NG_033104.1:g.83032A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255674.11:c.3190A>C ENSP00000255674.7:p.Lys1064Gln
ENST00000638251.1:c.*1182A>C ENSP00000491968.1:n.*1182A>C
ENST00000638298.1:c.179A>C
ENST00000639128.1:n.736A>C
ENST00000640376.1:c.2624+663A>C ENSP00000491654.1:n.2624+663A>C
ENST00000640408.1:n.3622A>C
ENST00000640769.2:c.3190A>C MANE Select ENSP00000491507.1:p.Lys1064Gln
ENST00000640931.1:c.411A>C
ENST00000677824.1:c.783-5995A>C ENSP00000504646.1:n.783-5995A>C
ENST00000679113.1:c.412A>C ENSP00000504487.1:p.Lys138Gln
ENST00000255674.10:c.3190A>C ENSP00000255674.6:p.Lys1064Gln
ENST00000581161.5:c.*1504A>C ENSP00000462926.1:n.*1504A>C
ENST00000583043.5:c.2471A>C ENSP00000462733.1:n.2471A>C
NM_173630.3:c.3190A>C NP_775901.3:p.Lys1064Gln
XM_005266679.1:c.454A>C XP_005266736.1:p.Lys152Gln
XM_006722434.2:c.3193A>C XP_006722497.1:p.Lys1065Gln
XM_006722435.2:c.3193A>C XP_006722498.1:p.Lys1065Gln
XM_011525902.1:c.3146+663A>C XP_011524204.1:n.3146+663A>C
XM_011525903.1:c.2958-5995A>C XP_011524205.1:n.2958-5995A>C
XM_011525904.1:c.3193A>C XP_011524206.1:p.Lys1065Gln
XM_011525905.1:c.3193A>C XP_011524207.1:p.Lys1065Gln
XM_011525906.1:c.1693A>C XP_011524208.1:p.Lys565Gln
XM_011525907.1:c.3193A>C XP_011524209.1:p.Lys1065Gln
XM_011525908.1:c.3193A>C XP_011524210.1:p.Lys1065Gln
XR_430072.2:n.3231A>C
XR_935213.1:n.3231A>C
NM_001318520.1:c.454A>C NP_001305449.1:p.Lys152Gln
XM_006722434.3:c.3193A>C XP_006722497.1:p.Lys1065Gln
XM_006722435.3:c.3193A>C XP_006722498.1:p.Lys1065Gln
XM_011525902.2:c.3146+663A>C XP_011524204.1:n.3146+663A>C
XM_011525903.2:c.2958-5995A>C XP_011524205.1:n.2958-5995A>C
XM_011525904.3:c.3193A>C XP_011524206.1:p.Lys1065Gln
XM_011525905.2:c.3193A>C XP_011524207.1:p.Lys1065Gln
XM_011525906.2:c.1693A>C XP_011524208.1:p.Lys565Gln
XM_011525907.2:c.3193A>C XP_011524209.1:p.Lys1065Gln
XM_011525908.3:c.3193A>C XP_011524210.1:p.Lys1065Gln
XM_017025693.1:c.3143+663A>C XP_016881182.1:n.3143+663A>C
XM_017025694.1:c.2551A>C XP_016881183.1:p.Lys851Gln
XM_017025695.1:c.2128A>C XP_016881184.1:p.Lys710Gln
XM_017025696.1:c.1084A>C XP_016881185.1:p.Lys362Gln
XM_024451139.1:c.2413A>C XP_024306907.1:p.Lys805Gln
XM_024451140.1:c.2413A>C XP_024306908.1:p.Lys805Gln
XR_430072.3:n.3261A>C
XR_935213.2:n.3261A>C
NM_001318520.2:c.454A>C NP_001305449.1:p.Lys152Gln
NM_173630.4:c.3190A>C MANE Select NP_775901.3:p.Lys1064Gln