Canonical Allele Identifier: CA8996383

Gene: RTTN

Linked Data

• ClinVar Variation Id: 1429275
• ClinVar RCV Id: RCV001938848 ; RCV002560631
• dbSNP Id: rs201226318
• ExAC: 18:67863859 G / A
• gnomAD v2: 18-67863859-G-A
• gnomAD v3: 18-70196623-G-A
• gnomAD v4: 18-70196623-G-A
• MyVariant Identifiers: chr18:g.67863859G>A (hg19) ; chr18:g.70196623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70196623G>A , CM000680.2:g.70196623G>A	GRCh38
NC_000018.9:g.67863859G>A , CM000680.1:g.67863859G>A	GRCh37
NC_000018.8:g.66014839G>A	NCBI36
NG_033104.1:g.14104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.719C>T	ENSP00000255674.7:p.Ala240Val
ENST00000638251.1:c.719C>T	ENSP00000491968.1:p.Ala240Val
ENST00000640376.1:c.200C>T	ENSP00000491654.1:p.Ala67Val
ENST00000640654.1:n.269C>T
ENST00000640736.1:n.567C>T
ENST00000640769.2:c.719C>T MANE Select	ENSP00000491507.1:p.Ala240Val
ENST00000255674.10:c.719C>T	ENSP00000255674.6:p.Ala240Val
ENST00000581161.5:c.719C>T	ENSP00000462926.1:p.Ala240Val
ENST00000581583.1:n.787C>T
ENST00000583043.5:c.89C>T	ENSP00000462733.1:p.Ala30Val
NM_173630.3:c.719C>T	NP_775901.3:p.Ala240Val
XM_005266679.1:c.-1835C>T	XP_005266736.1:n.-1835C>T
XM_006722434.2:c.719C>T	XP_006722497.1:p.Ala240Val
XM_006722435.2:c.719C>T	XP_006722498.1:p.Ala240Val
XM_011525902.1:c.719C>T	XP_011524204.1:p.Ala240Val
XM_011525903.1:c.719C>T	XP_011524205.1:p.Ala240Val
XM_011525904.1:c.719C>T	XP_011524206.1:p.Ala240Val
XM_011525905.1:c.719C>T	XP_011524207.1:p.Ala240Val
XM_011525907.1:c.719C>T	XP_011524209.1:p.Ala240Val
XM_011525908.1:c.719C>T	XP_011524210.1:p.Ala240Val
XR_430072.2:n.757C>T
XR_935213.1:n.757C>T
NM_001318520.1:c.-1835C>T	NP_001305449.1:n.-1835C>T
XM_006722434.3:c.719C>T	XP_006722497.1:p.Ala240Val
XM_006722435.3:c.719C>T	XP_006722498.1:p.Ala240Val
XM_011525902.2:c.719C>T	XP_011524204.1:p.Ala240Val
XM_011525903.2:c.719C>T	XP_011524205.1:p.Ala240Val
XM_011525904.3:c.719C>T	XP_011524206.1:p.Ala240Val
XM_011525905.2:c.719C>T	XP_011524207.1:p.Ala240Val
XM_011525907.2:c.719C>T	XP_011524209.1:p.Ala240Val
XM_011525908.3:c.719C>T	XP_011524210.1:p.Ala240Val
XM_017025693.1:c.719C>T	XP_016881182.1:p.Ala240Val
XM_017025694.1:c.77C>T	XP_016881183.1:p.Ala26Val
XM_017025696.1:c.-1453C>T	XP_016881185.1:n.-1453C>T
XM_024451139.1:c.-62C>T	XP_024306907.1:n.-62C>T
XM_024451140.1:c.-62C>T	XP_024306908.1:n.-62C>T
XR_430072.3:n.787C>T
XR_935213.2:n.787C>T
NM_001318520.2:c.-1835C>T	NP_001305449.1:n.-1835C>T
NM_173630.4:c.719C>T MANE Select	NP_775901.3:p.Ala240Val