Canonical Allele Identifier: CA402694592

Gene: RTTN

Linked Data

• gnomAD v4: 18-70059924-G-T
• MyVariant Identifiers: chr18:g.67727160G>T (hg19) ; chr18:g.70059924G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70059924G>T , CM000680.2:g.70059924G>T	GRCh38
NC_000018.9:g.67727160G>T , CM000680.1:g.67727160G>T	GRCh37
NC_000018.8:g.65878140G>T	NCBI36
NG_033104.1:g.150803C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255674.11:c.4866C>A	ENSP00000255674.7:p.Asp1622Glu
ENST00000579986.6:c.953C>A	ENSP00000491518.1:p.Thr318Lys
ENST00000639128.1:n.2412C>A
ENST00000639487.1:c.20C>A
ENST00000640769.2:c.4866C>A MANE Select	ENSP00000491507.1:p.Asp1622Glu
ENST00000677824.1:c.2265C>A	ENSP00000504646.1:p.Asp755Glu
ENST00000679113.1:c.2218C>A	ENSP00000504487.1:n.2218C>A
ENST00000255674.10:c.4866C>A	ENSP00000255674.6:p.Asp1622Glu
ENST00000581161.5:c.*3180C>A	ENSP00000462926.1:n.*3180C>A
ENST00000583043.5:c.4147C>A	ENSP00000462733.1:n.4147C>A
NM_173630.3:c.4866C>A	NP_775901.3:p.Asp1622Glu
XM_005266679.1:c.2130C>A	XP_005266736.1:p.Asp710Glu
XM_006722434.2:c.4869C>A	XP_006722497.1:p.Asp1623Glu
XM_006722435.2:c.4869C>A	XP_006722498.1:p.Asp1623Glu
XM_011525902.1:c.4629C>A	XP_011524204.1:p.Asp1543Glu
XM_011525903.1:c.4440C>A	XP_011524205.1:p.Asp1480Glu
XM_011525904.1:c.4869C>A	XP_011524206.1:p.Asp1623Glu
XM_011525905.1:c.4869C>A	XP_011524207.1:p.Asp1623Glu
XM_011525906.1:c.3369C>A	XP_011524208.1:p.Asp1123Glu
XR_430072.2:n.4907C>A
NM_001318520.1:c.2130C>A	NP_001305449.1:p.Asp710Glu
XM_006722434.3:c.4869C>A	XP_006722497.1:p.Asp1623Glu
XM_006722435.3:c.4869C>A	XP_006722498.1:p.Asp1623Glu
XM_011525902.2:c.4629C>A	XP_011524204.1:p.Asp1543Glu
XM_011525903.2:c.4440C>A	XP_011524205.1:p.Asp1480Glu
XM_011525904.3:c.4869C>A	XP_011524206.1:p.Asp1623Glu
XM_011525905.2:c.4869C>A	XP_011524207.1:p.Asp1623Glu
XM_011525906.2:c.3369C>A	XP_011524208.1:p.Asp1123Glu
XM_017025693.1:c.4626C>A	XP_016881182.1:p.Asp1542Glu
XM_017025694.1:c.4227C>A	XP_016881183.1:p.Asp1409Glu
XM_017025695.1:c.3804C>A	XP_016881184.1:p.Asp1268Glu
XM_017025696.1:c.2760C>A	XP_016881185.1:p.Asp920Glu
XM_024451139.1:c.4089C>A	XP_024306907.1:p.Asp1363Glu
XM_024451140.1:c.4089C>A	XP_024306908.1:p.Asp1363Glu
XR_430072.3:n.4937C>A
NM_001318520.2:c.2130C>A	NP_001305449.1:p.Asp710Glu
NM_173630.4:c.4866C>A MANE Select	NP_775901.3:p.Asp1622Glu