Canonical Allele Identifier: CA367181299

Gene: RP9

Linked Data

• COSMIC: COSM1313050
• MyVariant Identifiers: chr7:g.33136118C>G (hg19) ; chr7:g.33096506C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096506C>G , CM000669.2:g.33096506C>G	GRCh38
NC_000007.13:g.33136118C>G , CM000669.1:g.33136118C>G	GRCh37
NC_000007.12:g.33102643C>G	NCBI36
NG_012968.1:g.17885G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2427G>C
ENST00000492391.2:n.1578G>C
ENST00000682645.1:n.3525G>C
ENST00000683432.1:c.*629G>C	ENSP00000508174.1:n.*629G>C
ENST00000684207.1:c.454G>C	ENSP00000506942.1:p.Glu152Gln
ENST00000297157.8:c.454G>C MANE Select	ENSP00000297157.3:p.Glu152Gln
ENST00000297157.7:c.454G>C	ENSP00000297157.3:p.Glu152Gln
ENST00000448915.1:c.352G>C	ENSP00000411577.1:p.Glu118Gln
NM_203288.1:c.454G>C	NP_976033.1:p.Glu152Gln
XM_011515468.1:c.352G>C	XP_011513770.1:p.Glu118Gln
XM_011515468.3:c.352G>C	XP_011513770.1:p.Glu118Gln
NM_203288.2:c.454G>C MANE Select	NP_976033.1:p.Glu152Gln