Canonical Allele Identifier: CA402694119

Gene: RTTN

Linked Data

• MyVariant Identifiers: chr18:g.67794970C>G (hg19) ; chr18:g.70127734C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70127734C>G , CM000680.2:g.70127734C>G	GRCh38
NC_000018.9:g.67794970C>G , CM000680.1:g.67794970C>G	GRCh37
NC_000018.8:g.65945950C>G	NCBI36
NG_033104.1:g.82993G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.3151G>C	ENSP00000255674.7:p.Asp1051His
ENST00000638251.1:c.*1143G>C	ENSP00000491968.1:n.*1143G>C
ENST00000638298.1:c.140G>C
ENST00000639128.1:n.697G>C
ENST00000640376.1:c.2624+624G>C	ENSP00000491654.1:n.2624+624G>C
ENST00000640408.1:n.3583G>C
ENST00000640769.2:c.3151G>C MANE Select	ENSP00000491507.1:p.Asp1051His
ENST00000640931.1:c.372G>C
ENST00000677824.1:c.783-6034G>C	ENSP00000504646.1:n.783-6034G>C
ENST00000679113.1:c.373G>C	ENSP00000504487.1:p.Asp125His
ENST00000255674.10:c.3151G>C	ENSP00000255674.6:p.Asp1051His
ENST00000581161.5:c.*1465G>C	ENSP00000462926.1:n.*1465G>C
ENST00000583043.5:c.2432G>C	ENSP00000462733.1:n.2432G>C
NM_173630.3:c.3151G>C	NP_775901.3:p.Asp1051His
XM_005266679.1:c.415G>C	XP_005266736.1:p.Asp139His
XM_006722434.2:c.3154G>C	XP_006722497.1:p.Asp1052His
XM_006722435.2:c.3154G>C	XP_006722498.1:p.Asp1052His
XM_011525902.1:c.3146+624G>C	XP_011524204.1:n.3146+624G>C
XM_011525903.1:c.2958-6034G>C	XP_011524205.1:n.2958-6034G>C
XM_011525904.1:c.3154G>C	XP_011524206.1:p.Asp1052His
XM_011525905.1:c.3154G>C	XP_011524207.1:p.Asp1052His
XM_011525906.1:c.1654G>C	XP_011524208.1:p.Asp552His
XM_011525907.1:c.3154G>C	XP_011524209.1:p.Asp1052His
XM_011525908.1:c.3154G>C	XP_011524210.1:p.Asp1052His
XR_430072.2:n.3192G>C
XR_935213.1:n.3192G>C
NM_001318520.1:c.415G>C	NP_001305449.1:p.Asp139His
XM_006722434.3:c.3154G>C	XP_006722497.1:p.Asp1052His
XM_006722435.3:c.3154G>C	XP_006722498.1:p.Asp1052His
XM_011525902.2:c.3146+624G>C	XP_011524204.1:n.3146+624G>C
XM_011525903.2:c.2958-6034G>C	XP_011524205.1:n.2958-6034G>C
XM_011525904.3:c.3154G>C	XP_011524206.1:p.Asp1052His
XM_011525905.2:c.3154G>C	XP_011524207.1:p.Asp1052His
XM_011525906.2:c.1654G>C	XP_011524208.1:p.Asp552His
XM_011525907.2:c.3154G>C	XP_011524209.1:p.Asp1052His
XM_011525908.3:c.3154G>C	XP_011524210.1:p.Asp1052His
XM_017025693.1:c.3143+624G>C	XP_016881182.1:n.3143+624G>C
XM_017025694.1:c.2512G>C	XP_016881183.1:p.Asp838His
XM_017025695.1:c.2089G>C	XP_016881184.1:p.Asp697His
XM_017025696.1:c.1045G>C	XP_016881185.1:p.Asp349His
XM_024451139.1:c.2374G>C	XP_024306907.1:p.Asp792His
XM_024451140.1:c.2374G>C	XP_024306908.1:p.Asp792His
XR_430072.3:n.3222G>C
XR_935213.2:n.3222G>C
NM_001318520.2:c.415G>C	NP_001305449.1:p.Asp139His
NM_173630.4:c.3151G>C MANE Select	NP_775901.3:p.Asp1051His