Canonical Allele Identifier: CA367181296

Gene: RP9

Linked Data

• COSMIC: COSM4164313
• MyVariant Identifiers: chr7:g.33136117T>C (hg19) ; chr7:g.33096505T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096505T>C , CM000669.2:g.33096505T>C	GRCh38
NC_000007.13:g.33136117T>C , CM000669.1:g.33136117T>C	GRCh37
NC_000007.12:g.33102642T>C	NCBI36
NG_012968.1:g.17886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2428A>G
ENST00000492391.2:n.1579A>G
ENST00000682645.1:n.3526A>G
ENST00000683432.1:c.*630A>G	ENSP00000508174.1:n.*630A>G
ENST00000684207.1:c.455A>G	ENSP00000506942.1:p.Glu152Gly
ENST00000297157.8:c.455A>G MANE Select	ENSP00000297157.3:p.Glu152Gly
ENST00000297157.7:c.455A>G	ENSP00000297157.3:p.Glu152Gly
ENST00000448915.1:c.353A>G	ENSP00000411577.1:p.Glu118Gly
NM_203288.1:c.455A>G	NP_976033.1:p.Glu152Gly
XM_011515468.1:c.353A>G	XP_011513770.1:p.Glu118Gly
XM_011515468.3:c.353A>G	XP_011513770.1:p.Glu118Gly
NM_203288.2:c.455A>G MANE Select	NP_976033.1:p.Glu152Gly