Canonical Allele Identifier: CA367181339

Gene: RP9

Linked Data

• MyVariant Identifiers: chr7:g.33136126T>C (hg19) ; chr7:g.33096514T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096514T>C , CM000669.2:g.33096514T>C	GRCh38
NC_000007.13:g.33136126T>C , CM000669.1:g.33136126T>C	GRCh37
NC_000007.12:g.33102651T>C	NCBI36
NG_012968.1:g.17877A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2419A>G
ENST00000492391.2:n.1570A>G
ENST00000682645.1:n.3517A>G
ENST00000683432.1:c.*621A>G	ENSP00000508174.1:n.*621A>G
ENST00000684207.1:c.446A>G	ENSP00000506942.1:p.Lys149Arg
ENST00000297157.8:c.446A>G MANE Select	ENSP00000297157.3:p.Lys149Arg
ENST00000297157.7:c.446A>G	ENSP00000297157.3:p.Lys149Arg
ENST00000448915.1:c.344A>G	ENSP00000411577.1:p.Lys115Arg
NM_203288.1:c.446A>G	NP_976033.1:p.Lys149Arg
XM_011515468.1:c.344A>G	XP_011513770.1:p.Lys115Arg
XM_011515468.3:c.344A>G	XP_011513770.1:p.Lys115Arg
NM_203288.2:c.446A>G MANE Select	NP_976033.1:p.Lys149Arg