Canonical Allele Identifier: CA402700014
Gene: RTTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.70196640T>G , CM000680.2:g.70196640T>G GRCh38
NC_000018.9:g.67863876T>G , CM000680.1:g.67863876T>G GRCh37
NC_000018.8:g.66014856T>G NCBI36
NG_033104.1:g.14087A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255674.11:c.702A>C ENSP00000255674.7:p.Leu234Phe
ENST00000638251.1:c.702A>C ENSP00000491968.1:p.Leu234Phe
ENST00000640376.1:c.183A>C ENSP00000491654.1:p.Leu61Phe
ENST00000640654.1:n.252A>C
ENST00000640736.1:n.550A>C
ENST00000640769.2:c.702A>C MANE Select ENSP00000491507.1:p.Leu234Phe
ENST00000255674.10:c.702A>C ENSP00000255674.6:p.Leu234Phe
ENST00000581161.5:c.702A>C ENSP00000462926.1:p.Leu234Phe
ENST00000581583.1:n.770A>C
ENST00000583043.5:c.72A>C ENSP00000462733.1:p.Leu24Phe
NM_173630.3:c.702A>C NP_775901.3:p.Leu234Phe
XM_005266679.1:c.-1852A>C XP_005266736.1:n.-1852A>C
XM_006722434.2:c.702A>C XP_006722497.1:p.Leu234Phe
XM_006722435.2:c.702A>C XP_006722498.1:p.Leu234Phe
XM_011525902.1:c.702A>C XP_011524204.1:p.Leu234Phe
XM_011525903.1:c.702A>C XP_011524205.1:p.Leu234Phe
XM_011525904.1:c.702A>C XP_011524206.1:p.Leu234Phe
XM_011525905.1:c.702A>C XP_011524207.1:p.Leu234Phe
XM_011525907.1:c.702A>C XP_011524209.1:p.Leu234Phe
XM_011525908.1:c.702A>C XP_011524210.1:p.Leu234Phe
XR_430072.2:n.740A>C
XR_935213.1:n.740A>C
NM_001318520.1:c.-1852A>C NP_001305449.1:n.-1852A>C
XM_006722434.3:c.702A>C XP_006722497.1:p.Leu234Phe
XM_006722435.3:c.702A>C XP_006722498.1:p.Leu234Phe
XM_011525902.2:c.702A>C XP_011524204.1:p.Leu234Phe
XM_011525903.2:c.702A>C XP_011524205.1:p.Leu234Phe
XM_011525904.3:c.702A>C XP_011524206.1:p.Leu234Phe
XM_011525905.2:c.702A>C XP_011524207.1:p.Leu234Phe
XM_011525907.2:c.702A>C XP_011524209.1:p.Leu234Phe
XM_011525908.3:c.702A>C XP_011524210.1:p.Leu234Phe
XM_017025693.1:c.702A>C XP_016881182.1:p.Leu234Phe
XM_017025694.1:c.60A>C XP_016881183.1:p.Leu20Phe
XM_017025696.1:c.-1470A>C XP_016881185.1:n.-1470A>C
XM_024451139.1:c.-79A>C XP_024306907.1:n.-79A>C
XM_024451140.1:c.-79A>C XP_024306908.1:n.-79A>C
XR_430072.3:n.770A>C
XR_935213.2:n.770A>C
NM_001318520.2:c.-1852A>C NP_001305449.1:n.-1852A>C
NM_173630.4:c.702A>C MANE Select NP_775901.3:p.Leu234Phe