Canonical Allele Identifier: CA504552627

Gene: RTTN

Linked Data

• MyVariant Identifiers: chr18:g.67794935A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70127699A>G , CM000680.2:g.70127699A>G	GRCh38
NC_000018.9:g.67794935A>G , CM000680.1:g.67794935A>G	GRCh37
NC_000018.8:g.65945915A>G	NCBI36
NG_033104.1:g.83028T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.3186T>C	ENSP00000255674.7:p.Thr1062=
ENST00000638251.1:c.*1178T>C	ENSP00000491968.1:n.*1178T>C
ENST00000638298.1:c.175T>C
ENST00000639128.1:n.732T>C
ENST00000640376.1:c.2624+659T>C	ENSP00000491654.1:n.2624+659T>C
ENST00000640408.1:n.3618T>C
ENST00000640769.2:c.3186T>C MANE Select	ENSP00000491507.1:p.Thr1062=
ENST00000640931.1:c.407T>C
ENST00000677824.1:c.783-5999T>C	ENSP00000504646.1:n.783-5999T>C
ENST00000679113.1:c.408T>C	ENSP00000504487.1:p.Thr136=
ENST00000255674.10:c.3186T>C	ENSP00000255674.6:p.Thr1062=
ENST00000581161.5:c.*1500T>C	ENSP00000462926.1:n.*1500T>C
ENST00000583043.5:c.2467T>C	ENSP00000462733.1:n.2467T>C
NM_173630.3:c.3186T>C	NP_775901.3:p.Thr1062=
XM_005266679.1:c.450T>C	XP_005266736.1:p.Thr150=
XM_006722434.2:c.3189T>C	XP_006722497.1:p.Thr1063=
XM_006722435.2:c.3189T>C	XP_006722498.1:p.Thr1063=
XM_011525902.1:c.3146+659T>C	XP_011524204.1:n.3146+659T>C
XM_011525903.1:c.2958-5999T>C	XP_011524205.1:n.2958-5999T>C
XM_011525904.1:c.3189T>C	XP_011524206.1:p.Thr1063=
XM_011525905.1:c.3189T>C	XP_011524207.1:p.Thr1063=
XM_011525906.1:c.1689T>C	XP_011524208.1:p.Thr563=
XM_011525907.1:c.3189T>C	XP_011524209.1:p.Thr1063=
XM_011525908.1:c.3189T>C	XP_011524210.1:p.Thr1063=
XR_430072.2:n.3227T>C
XR_935213.1:n.3227T>C
NM_001318520.1:c.450T>C	NP_001305449.1:p.Thr150=
XM_006722434.3:c.3189T>C	XP_006722497.1:p.Thr1063=
XM_006722435.3:c.3189T>C	XP_006722498.1:p.Thr1063=
XM_011525902.2:c.3146+659T>C	XP_011524204.1:n.3146+659T>C
XM_011525903.2:c.2958-5999T>C	XP_011524205.1:n.2958-5999T>C
XM_011525904.3:c.3189T>C	XP_011524206.1:p.Thr1063=
XM_011525905.2:c.3189T>C	XP_011524207.1:p.Thr1063=
XM_011525906.2:c.1689T>C	XP_011524208.1:p.Thr563=
XM_011525907.2:c.3189T>C	XP_011524209.1:p.Thr1063=
XM_011525908.3:c.3189T>C	XP_011524210.1:p.Thr1063=
XM_017025693.1:c.3143+659T>C	XP_016881182.1:n.3143+659T>C
XM_017025694.1:c.2547T>C	XP_016881183.1:p.Thr849=
XM_017025695.1:c.2124T>C	XP_016881184.1:p.Thr708=
XM_017025696.1:c.1080T>C	XP_016881185.1:p.Thr360=
XM_024451139.1:c.2409T>C	XP_024306907.1:p.Thr803=
XM_024451140.1:c.2409T>C	XP_024306908.1:p.Thr803=
XR_430072.3:n.3257T>C
XR_935213.2:n.3257T>C
NM_001318520.2:c.450T>C	NP_001305449.1:p.Thr150=
NM_173630.4:c.3186T>C MANE Select	NP_775901.3:p.Thr1062=