Canonical Allele Identifier: CA367181540

Gene: RP9

Linked Data

• MyVariant Identifiers: chr7:g.33136153G>A (hg19) ; chr7:g.33096541G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096541G>A , CM000669.2:g.33096541G>A	GRCh38
NC_000007.13:g.33136153G>A , CM000669.1:g.33136153G>A	GRCh37
NC_000007.12:g.33102678G>A	NCBI36
NG_012968.1:g.17850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2392C>T
ENST00000492391.2:n.1543C>T
ENST00000682645.1:n.3490C>T
ENST00000683432.1:c.*594C>T	ENSP00000508174.1:n.*594C>T
ENST00000684207.1:c.419C>T	ENSP00000506942.1:p.Pro140Leu
ENST00000297157.8:c.419C>T MANE Select	ENSP00000297157.3:p.Pro140Leu
ENST00000297157.7:c.419C>T	ENSP00000297157.3:p.Pro140Leu
ENST00000448915.1:c.317C>T	ENSP00000411577.1:p.Pro106Leu
NM_203288.1:c.419C>T	NP_976033.1:p.Pro140Leu
XM_011515468.1:c.317C>T	XP_011513770.1:p.Pro106Leu
XM_011515468.3:c.317C>T	XP_011513770.1:p.Pro106Leu
NM_203288.2:c.419C>T MANE Select	NP_976033.1:p.Pro140Leu