Canonical Allele Identifier: CA504562355

Gene: RTTN

Linked Data

• MyVariant Identifiers: chr18:g.67794938G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70127702G>C , CM000680.2:g.70127702G>C	GRCh38
NC_000018.9:g.67794938G>C , CM000680.1:g.67794938G>C	GRCh37
NC_000018.8:g.65945918G>C	NCBI36
NG_033104.1:g.83025C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255674.11:c.3183C>G	ENSP00000255674.7:p.Leu1061=
ENST00000638251.1:c.*1175C>G	ENSP00000491968.1:n.*1175C>G
ENST00000638298.1:c.172C>G
ENST00000639128.1:n.729C>G
ENST00000640376.1:c.2624+656C>G	ENSP00000491654.1:n.2624+656C>G
ENST00000640408.1:n.3615C>G
ENST00000640769.2:c.3183C>G MANE Select	ENSP00000491507.1:p.Leu1061=
ENST00000640931.1:c.404C>G
ENST00000677824.1:c.783-6002C>G	ENSP00000504646.1:n.783-6002C>G
ENST00000679113.1:c.405C>G	ENSP00000504487.1:p.Leu135=
ENST00000255674.10:c.3183C>G	ENSP00000255674.6:p.Leu1061=
ENST00000581161.5:c.*1497C>G	ENSP00000462926.1:n.*1497C>G
ENST00000583043.5:c.2464C>G	ENSP00000462733.1:n.2464C>G
NM_173630.3:c.3183C>G	NP_775901.3:p.Leu1061=
XM_005266679.1:c.447C>G	XP_005266736.1:p.Leu149=
XM_006722434.2:c.3186C>G	XP_006722497.1:p.Leu1062=
XM_006722435.2:c.3186C>G	XP_006722498.1:p.Leu1062=
XM_011525902.1:c.3146+656C>G	XP_011524204.1:n.3146+656C>G
XM_011525903.1:c.2958-6002C>G	XP_011524205.1:n.2958-6002C>G
XM_011525904.1:c.3186C>G	XP_011524206.1:p.Leu1062=
XM_011525905.1:c.3186C>G	XP_011524207.1:p.Leu1062=
XM_011525906.1:c.1686C>G	XP_011524208.1:p.Leu562=
XM_011525907.1:c.3186C>G	XP_011524209.1:p.Leu1062=
XM_011525908.1:c.3186C>G	XP_011524210.1:p.Leu1062=
XR_430072.2:n.3224C>G
XR_935213.1:n.3224C>G
NM_001318520.1:c.447C>G	NP_001305449.1:p.Leu149=
XM_006722434.3:c.3186C>G	XP_006722497.1:p.Leu1062=
XM_006722435.3:c.3186C>G	XP_006722498.1:p.Leu1062=
XM_011525902.2:c.3146+656C>G	XP_011524204.1:n.3146+656C>G
XM_011525903.2:c.2958-6002C>G	XP_011524205.1:n.2958-6002C>G
XM_011525904.3:c.3186C>G	XP_011524206.1:p.Leu1062=
XM_011525905.2:c.3186C>G	XP_011524207.1:p.Leu1062=
XM_011525906.2:c.1686C>G	XP_011524208.1:p.Leu562=
XM_011525907.2:c.3186C>G	XP_011524209.1:p.Leu1062=
XM_011525908.3:c.3186C>G	XP_011524210.1:p.Leu1062=
XM_017025693.1:c.3143+656C>G	XP_016881182.1:n.3143+656C>G
XM_017025694.1:c.2544C>G	XP_016881183.1:p.Leu848=
XM_017025695.1:c.2121C>G	XP_016881184.1:p.Leu707=
XM_017025696.1:c.1077C>G	XP_016881185.1:p.Leu359=
XM_024451139.1:c.2406C>G	XP_024306907.1:p.Leu802=
XM_024451140.1:c.2406C>G	XP_024306908.1:p.Leu802=
XR_430072.3:n.3254C>G
XR_935213.2:n.3254C>G
NM_001318520.2:c.447C>G	NP_001305449.1:p.Leu149=
NM_173630.4:c.3183C>G MANE Select	NP_775901.3:p.Leu1061=