Canonical Allele Identifier: CA402694568

Gene: RTTN

Linked Data

• MyVariant Identifiers: chr18:g.67727156G>A (hg19) ; chr18:g.70059920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70059920G>A , CM000680.2:g.70059920G>A	GRCh38
NC_000018.9:g.67727156G>A , CM000680.1:g.67727156G>A	GRCh37
NC_000018.8:g.65878136G>A	NCBI36
NG_033104.1:g.150807C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255674.11:c.4870C>T	ENSP00000255674.7:p.Leu1624Phe
ENST00000579986.6:c.957C>T	ENSP00000491518.1:p.Thr319=
ENST00000639128.1:n.2416C>T
ENST00000639487.1:c.24C>T
ENST00000640769.2:c.4870C>T MANE Select	ENSP00000491507.1:p.Leu1624Phe
ENST00000677824.1:c.2269C>T	ENSP00000504646.1:p.Leu757Phe
ENST00000679113.1:c.2222C>T	ENSP00000504487.1:n.2222C>T
ENST00000255674.10:c.4870C>T	ENSP00000255674.6:p.Leu1624Phe
ENST00000581161.5:c.*3184C>T	ENSP00000462926.1:n.*3184C>T
ENST00000583043.5:c.4151C>T	ENSP00000462733.1:n.4151C>T
NM_173630.3:c.4870C>T	NP_775901.3:p.Leu1624Phe
XM_005266679.1:c.2134C>T	XP_005266736.1:p.Leu712Phe
XM_006722434.2:c.4873C>T	XP_006722497.1:p.Leu1625Phe
XM_006722435.2:c.4873C>T	XP_006722498.1:p.Leu1625Phe
XM_011525902.1:c.4633C>T	XP_011524204.1:p.Leu1545Phe
XM_011525903.1:c.4444C>T	XP_011524205.1:p.Leu1482Phe
XM_011525904.1:c.4873C>T	XP_011524206.1:p.Leu1625Phe
XM_011525905.1:c.4873C>T	XP_011524207.1:p.Leu1625Phe
XM_011525906.1:c.3373C>T	XP_011524208.1:p.Leu1125Phe
XR_430072.2:n.4911C>T
NM_001318520.1:c.2134C>T	NP_001305449.1:p.Leu712Phe
XM_006722434.3:c.4873C>T	XP_006722497.1:p.Leu1625Phe
XM_006722435.3:c.4873C>T	XP_006722498.1:p.Leu1625Phe
XM_011525902.2:c.4633C>T	XP_011524204.1:p.Leu1545Phe
XM_011525903.2:c.4444C>T	XP_011524205.1:p.Leu1482Phe
XM_011525904.3:c.4873C>T	XP_011524206.1:p.Leu1625Phe
XM_011525905.2:c.4873C>T	XP_011524207.1:p.Leu1625Phe
XM_011525906.2:c.3373C>T	XP_011524208.1:p.Leu1125Phe
XM_017025693.1:c.4630C>T	XP_016881182.1:p.Leu1544Phe
XM_017025694.1:c.4231C>T	XP_016881183.1:p.Leu1411Phe
XM_017025695.1:c.3808C>T	XP_016881184.1:p.Leu1270Phe
XM_017025696.1:c.2764C>T	XP_016881185.1:p.Leu922Phe
XM_024451139.1:c.4093C>T	XP_024306907.1:p.Leu1365Phe
XM_024451140.1:c.4093C>T	XP_024306908.1:p.Leu1365Phe
XR_430072.3:n.4941C>T
NM_001318520.2:c.2134C>T	NP_001305449.1:p.Leu712Phe
NM_173630.4:c.4870C>T MANE Select	NP_775901.3:p.Leu1624Phe