Canonical Allele Identifier: CA402700013

Gene: RTTN

Linked Data

• MyVariant Identifiers: chr18:g.67863876T>A (hg19) ; chr18:g.70196640T>A (hg38)

Genomic Alleles

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

Transcript Alleles

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