Canonical Allele Identifier: CA8996386

Gene: RTTN

Linked Data

• ClinVar Variation Id: 2802107
• ClinVar RCV Id: RCV003676496
• dbSNP Id: rs775068772
• ExAC: 18:67863873 A / G
• gnomAD v2: 18-67863873-A-G
• gnomAD v4: 18-70196637-A-G
• MyVariant Identifiers: chr18:g.67863873A>G (hg19) ; chr18:g.70196637A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70196637A>G , CM000680.2:g.70196637A>G	GRCh38
NC_000018.9:g.67863873A>G , CM000680.1:g.67863873A>G	GRCh37
NC_000018.8:g.66014853A>G	NCBI36
NG_033104.1:g.14090T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.705T>C	ENSP00000255674.7:p.Ser235=
ENST00000638251.1:c.705T>C	ENSP00000491968.1:p.Ser235=
ENST00000640376.1:c.186T>C	ENSP00000491654.1:p.Ser62=
ENST00000640654.1:n.255T>C
ENST00000640736.1:n.553T>C
ENST00000640769.2:c.705T>C MANE Select	ENSP00000491507.1:p.Ser235=
ENST00000255674.10:c.705T>C	ENSP00000255674.6:p.Ser235=
ENST00000581161.5:c.705T>C	ENSP00000462926.1:p.Ser235=
ENST00000581583.1:n.773T>C
ENST00000583043.5:c.75T>C	ENSP00000462733.1:p.Ser25=
NM_173630.3:c.705T>C	NP_775901.3:p.Ser235=
XM_005266679.1:c.-1849T>C	XP_005266736.1:n.-1849T>C
XM_006722434.2:c.705T>C	XP_006722497.1:p.Ser235=
XM_006722435.2:c.705T>C	XP_006722498.1:p.Ser235=
XM_011525902.1:c.705T>C	XP_011524204.1:p.Ser235=
XM_011525903.1:c.705T>C	XP_011524205.1:p.Ser235=
XM_011525904.1:c.705T>C	XP_011524206.1:p.Ser235=
XM_011525905.1:c.705T>C	XP_011524207.1:p.Ser235=
XM_011525907.1:c.705T>C	XP_011524209.1:p.Ser235=
XM_011525908.1:c.705T>C	XP_011524210.1:p.Ser235=
XR_430072.2:n.743T>C
XR_935213.1:n.743T>C
NM_001318520.1:c.-1849T>C	NP_001305449.1:n.-1849T>C
XM_006722434.3:c.705T>C	XP_006722497.1:p.Ser235=
XM_006722435.3:c.705T>C	XP_006722498.1:p.Ser235=
XM_011525902.2:c.705T>C	XP_011524204.1:p.Ser235=
XM_011525903.2:c.705T>C	XP_011524205.1:p.Ser235=
XM_011525904.3:c.705T>C	XP_011524206.1:p.Ser235=
XM_011525905.2:c.705T>C	XP_011524207.1:p.Ser235=
XM_011525907.2:c.705T>C	XP_011524209.1:p.Ser235=
XM_011525908.3:c.705T>C	XP_011524210.1:p.Ser235=
XM_017025693.1:c.705T>C	XP_016881182.1:p.Ser235=
XM_017025694.1:c.63T>C	XP_016881183.1:p.Ser21=
XM_017025696.1:c.-1467T>C	XP_016881185.1:n.-1467T>C
XM_024451139.1:c.-76T>C	XP_024306907.1:n.-76T>C
XM_024451140.1:c.-76T>C	XP_024306908.1:n.-76T>C
XR_430072.3:n.773T>C
XR_935213.2:n.773T>C
NM_001318520.2:c.-1849T>C	NP_001305449.1:n.-1849T>C
NM_173630.4:c.705T>C MANE Select	NP_775901.3:p.Ser235=