Canonical Allele Identifier: CA402699986

Gene: RTTN

Linked Data

• MyVariant Identifiers: chr18:g.67863862A>T (hg19) ; chr18:g.70196626A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70196626A>T , CM000680.2:g.70196626A>T	GRCh38
NC_000018.9:g.67863862A>T , CM000680.1:g.67863862A>T	GRCh37
NC_000018.8:g.66014842A>T	NCBI36
NG_033104.1:g.14101T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.716T>A	ENSP00000255674.7:p.Leu239Gln
ENST00000638251.1:c.716T>A	ENSP00000491968.1:p.Leu239Gln
ENST00000640376.1:c.197T>A	ENSP00000491654.1:p.Leu66Gln
ENST00000640654.1:n.266T>A
ENST00000640736.1:n.564T>A
ENST00000640769.2:c.716T>A MANE Select	ENSP00000491507.1:p.Leu239Gln
ENST00000255674.10:c.716T>A	ENSP00000255674.6:p.Leu239Gln
ENST00000581161.5:c.716T>A	ENSP00000462926.1:p.Leu239Gln
ENST00000581583.1:n.784T>A
ENST00000583043.5:c.86T>A	ENSP00000462733.1:p.Leu29Gln
NM_173630.3:c.716T>A	NP_775901.3:p.Leu239Gln
XM_005266679.1:c.-1838T>A	XP_005266736.1:n.-1838T>A
XM_006722434.2:c.716T>A	XP_006722497.1:p.Leu239Gln
XM_006722435.2:c.716T>A	XP_006722498.1:p.Leu239Gln
XM_011525902.1:c.716T>A	XP_011524204.1:p.Leu239Gln
XM_011525903.1:c.716T>A	XP_011524205.1:p.Leu239Gln
XM_011525904.1:c.716T>A	XP_011524206.1:p.Leu239Gln
XM_011525905.1:c.716T>A	XP_011524207.1:p.Leu239Gln
XM_011525907.1:c.716T>A	XP_011524209.1:p.Leu239Gln
XM_011525908.1:c.716T>A	XP_011524210.1:p.Leu239Gln
XR_430072.2:n.754T>A
XR_935213.1:n.754T>A
NM_001318520.1:c.-1838T>A	NP_001305449.1:n.-1838T>A
XM_006722434.3:c.716T>A	XP_006722497.1:p.Leu239Gln
XM_006722435.3:c.716T>A	XP_006722498.1:p.Leu239Gln
XM_011525902.2:c.716T>A	XP_011524204.1:p.Leu239Gln
XM_011525903.2:c.716T>A	XP_011524205.1:p.Leu239Gln
XM_011525904.3:c.716T>A	XP_011524206.1:p.Leu239Gln
XM_011525905.2:c.716T>A	XP_011524207.1:p.Leu239Gln
XM_011525907.2:c.716T>A	XP_011524209.1:p.Leu239Gln
XM_011525908.3:c.716T>A	XP_011524210.1:p.Leu239Gln
XM_017025693.1:c.716T>A	XP_016881182.1:p.Leu239Gln
XM_017025694.1:c.74T>A	XP_016881183.1:p.Leu25Gln
XM_017025696.1:c.-1456T>A	XP_016881185.1:n.-1456T>A
XM_024451139.1:c.-65T>A	XP_024306907.1:n.-65T>A
XM_024451140.1:c.-65T>A	XP_024306908.1:n.-65T>A
XR_430072.3:n.784T>A
XR_935213.2:n.784T>A
NM_001318520.2:c.-1838T>A	NP_001305449.1:n.-1838T>A
NM_173630.4:c.716T>A MANE Select	NP_775901.3:p.Leu239Gln