Canonical Allele Identifier: CA504562367

Gene: RTTN

Linked Data

• MyVariant Identifiers: chr18:g.67794958A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70127722A>G , CM000680.2:g.70127722A>G	GRCh38
NC_000018.9:g.67794958A>G , CM000680.1:g.67794958A>G	GRCh37
NC_000018.8:g.65945938A>G	NCBI36
NG_033104.1:g.83005T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.3163T>C	ENSP00000255674.7:p.Leu1055=
ENST00000638251.1:c.*1155T>C	ENSP00000491968.1:n.*1155T>C
ENST00000638298.1:c.152T>C
ENST00000639128.1:n.709T>C
ENST00000640376.1:c.2624+636T>C	ENSP00000491654.1:n.2624+636T>C
ENST00000640408.1:n.3595T>C
ENST00000640769.2:c.3163T>C MANE Select	ENSP00000491507.1:p.Leu1055=
ENST00000640931.1:c.384T>C
ENST00000677824.1:c.783-6022T>C	ENSP00000504646.1:n.783-6022T>C
ENST00000679113.1:c.385T>C	ENSP00000504487.1:p.Leu129=
ENST00000255674.10:c.3163T>C	ENSP00000255674.6:p.Leu1055=
ENST00000581161.5:c.*1477T>C	ENSP00000462926.1:n.*1477T>C
ENST00000583043.5:c.2444T>C	ENSP00000462733.1:n.2444T>C
NM_173630.3:c.3163T>C	NP_775901.3:p.Leu1055=
XM_005266679.1:c.427T>C	XP_005266736.1:p.Leu143=
XM_006722434.2:c.3166T>C	XP_006722497.1:p.Leu1056=
XM_006722435.2:c.3166T>C	XP_006722498.1:p.Leu1056=
XM_011525902.1:c.3146+636T>C	XP_011524204.1:n.3146+636T>C
XM_011525903.1:c.2958-6022T>C	XP_011524205.1:n.2958-6022T>C
XM_011525904.1:c.3166T>C	XP_011524206.1:p.Leu1056=
XM_011525905.1:c.3166T>C	XP_011524207.1:p.Leu1056=
XM_011525906.1:c.1666T>C	XP_011524208.1:p.Leu556=
XM_011525907.1:c.3166T>C	XP_011524209.1:p.Leu1056=
XM_011525908.1:c.3166T>C	XP_011524210.1:p.Leu1056=
XR_430072.2:n.3204T>C
XR_935213.1:n.3204T>C
NM_001318520.1:c.427T>C	NP_001305449.1:p.Leu143=
XM_006722434.3:c.3166T>C	XP_006722497.1:p.Leu1056=
XM_006722435.3:c.3166T>C	XP_006722498.1:p.Leu1056=
XM_011525902.2:c.3146+636T>C	XP_011524204.1:n.3146+636T>C
XM_011525903.2:c.2958-6022T>C	XP_011524205.1:n.2958-6022T>C
XM_011525904.3:c.3166T>C	XP_011524206.1:p.Leu1056=
XM_011525905.2:c.3166T>C	XP_011524207.1:p.Leu1056=
XM_011525906.2:c.1666T>C	XP_011524208.1:p.Leu556=
XM_011525907.2:c.3166T>C	XP_011524209.1:p.Leu1056=
XM_011525908.3:c.3166T>C	XP_011524210.1:p.Leu1056=
XM_017025693.1:c.3143+636T>C	XP_016881182.1:n.3143+636T>C
XM_017025694.1:c.2524T>C	XP_016881183.1:p.Leu842=
XM_017025695.1:c.2101T>C	XP_016881184.1:p.Leu701=
XM_017025696.1:c.1057T>C	XP_016881185.1:p.Leu353=
XM_024451139.1:c.2386T>C	XP_024306907.1:p.Leu796=
XM_024451140.1:c.2386T>C	XP_024306908.1:p.Leu796=
XR_430072.3:n.3234T>C
XR_935213.2:n.3234T>C
NM_001318520.2:c.427T>C	NP_001305449.1:p.Leu143=
NM_173630.4:c.3163T>C MANE Select	NP_775901.3:p.Leu1055=