Canonical Allele Identifier: CA367181318

Gene: RP9

Linked Data

• MyVariant Identifiers: chr7:g.33136123C>A (hg19) ; chr7:g.33096511C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096511C>A , CM000669.2:g.33096511C>A	GRCh38
NC_000007.13:g.33136123C>A , CM000669.1:g.33136123C>A	GRCh37
NC_000007.12:g.33102648C>A	NCBI36
NG_012968.1:g.17880G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2422G>T
ENST00000492391.2:n.1573G>T
ENST00000682645.1:n.3520G>T
ENST00000683432.1:c.*624G>T	ENSP00000508174.1:n.*624G>T
ENST00000684207.1:c.449G>T	ENSP00000506942.1:p.Arg150Leu
ENST00000297157.8:c.449G>T MANE Select	ENSP00000297157.3:p.Arg150Leu
ENST00000297157.7:c.449G>T	ENSP00000297157.3:p.Arg150Leu
ENST00000448915.1:c.347G>T	ENSP00000411577.1:p.Arg116Leu
NM_203288.1:c.449G>T	NP_976033.1:p.Arg150Leu
XM_011515468.1:c.347G>T	XP_011513770.1:p.Arg116Leu
XM_011515468.3:c.347G>T	XP_011513770.1:p.Arg116Leu
NM_203288.2:c.449G>T MANE Select	NP_976033.1:p.Arg150Leu