Canonical Allele Identifier: CA301960964

Gene: RTTN

Linked Data

• dbSNP Id: rs1000707166
• gnomAD v2: 18-67863877-A-T
• gnomAD v3: 18-70196641-A-T
• gnomAD v4: 18-70196641-A-T
• MyVariant Identifiers: chr18:g.67863877A>T (hg19) ; chr18:g.70196641A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70196641A>T , CM000680.2:g.70196641A>T	GRCh38
NC_000018.9:g.67863877A>T , CM000680.1:g.67863877A>T	GRCh37
NC_000018.8:g.66014857A>T	NCBI36
NG_033104.1:g.14086T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.701T>A	ENSP00000255674.7:p.Leu234Ter
ENST00000638251.1:c.701T>A	ENSP00000491968.1:p.Leu234Ter
ENST00000640376.1:c.182T>A	ENSP00000491654.1:p.Leu61Ter
ENST00000640654.1:n.251T>A
ENST00000640736.1:n.549T>A
ENST00000640769.2:c.701T>A MANE Select	ENSP00000491507.1:p.Leu234Ter
ENST00000255674.10:c.701T>A	ENSP00000255674.6:p.Leu234Ter
ENST00000581161.5:c.701T>A	ENSP00000462926.1:p.Leu234Ter
ENST00000581583.1:n.769T>A
ENST00000583043.5:c.71T>A	ENSP00000462733.1:p.Leu24Ter
NM_173630.3:c.701T>A	NP_775901.3:p.Leu234Ter
XM_005266679.1:c.-1853T>A	XP_005266736.1:n.-1853T>A
XM_006722434.2:c.701T>A	XP_006722497.1:p.Leu234Ter
XM_006722435.2:c.701T>A	XP_006722498.1:p.Leu234Ter
XM_011525902.1:c.701T>A	XP_011524204.1:p.Leu234Ter
XM_011525903.1:c.701T>A	XP_011524205.1:p.Leu234Ter
XM_011525904.1:c.701T>A	XP_011524206.1:p.Leu234Ter
XM_011525905.1:c.701T>A	XP_011524207.1:p.Leu234Ter
XM_011525907.1:c.701T>A	XP_011524209.1:p.Leu234Ter
XM_011525908.1:c.701T>A	XP_011524210.1:p.Leu234Ter
XR_430072.2:n.739T>A
XR_935213.1:n.739T>A
NM_001318520.1:c.-1853T>A	NP_001305449.1:n.-1853T>A
XM_006722434.3:c.701T>A	XP_006722497.1:p.Leu234Ter
XM_006722435.3:c.701T>A	XP_006722498.1:p.Leu234Ter
XM_011525902.2:c.701T>A	XP_011524204.1:p.Leu234Ter
XM_011525903.2:c.701T>A	XP_011524205.1:p.Leu234Ter
XM_011525904.3:c.701T>A	XP_011524206.1:p.Leu234Ter
XM_011525905.2:c.701T>A	XP_011524207.1:p.Leu234Ter
XM_011525907.2:c.701T>A	XP_011524209.1:p.Leu234Ter
XM_011525908.3:c.701T>A	XP_011524210.1:p.Leu234Ter
XM_017025693.1:c.701T>A	XP_016881182.1:p.Leu234Ter
XM_017025694.1:c.59T>A	XP_016881183.1:p.Leu20Ter
XM_017025696.1:c.-1471T>A	XP_016881185.1:n.-1471T>A
XM_024451139.1:c.-80T>A	XP_024306907.1:n.-80T>A
XM_024451140.1:c.-80T>A	XP_024306908.1:n.-80T>A
XR_430072.3:n.769T>A
XR_935213.2:n.769T>A
NM_001318520.2:c.-1853T>A	NP_001305449.1:n.-1853T>A
NM_173630.4:c.701T>A MANE Select	NP_775901.3:p.Leu234Ter