Canonical Allele Identifier: CA367181596

Gene: RP9

Linked Data

• MyVariant Identifiers: chr7:g.33136160C>G (hg19) ; chr7:g.33096548C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096548C>G , CM000669.2:g.33096548C>G	GRCh38
NC_000007.13:g.33136160C>G , CM000669.1:g.33136160C>G	GRCh37
NC_000007.12:g.33102685C>G	NCBI36
NG_012968.1:g.17843G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2385G>C
ENST00000492391.2:n.1536G>C
ENST00000682645.1:n.3483G>C
ENST00000683432.1:c.*587G>C	ENSP00000508174.1:n.*587G>C
ENST00000684207.1:c.412G>C	ENSP00000506942.1:p.Glu138Gln
ENST00000297157.8:c.412G>C MANE Select	ENSP00000297157.3:p.Glu138Gln
ENST00000297157.7:c.412G>C	ENSP00000297157.3:p.Glu138Gln
ENST00000448915.1:c.310G>C	ENSP00000411577.1:p.Glu104Gln
NM_203288.1:c.412G>C	NP_976033.1:p.Glu138Gln
XM_011515468.1:c.310G>C	XP_011513770.1:p.Glu104Gln
XM_011515468.3:c.310G>C	XP_011513770.1:p.Glu104Gln
NM_203288.2:c.412G>C MANE Select	NP_976033.1:p.Glu138Gln