Canonical Allele Identifier: CA367181350

Gene: RP9

Linked Data

• MyVariant Identifiers: chr7:g.33136128A>C (hg19) ; chr7:g.33096516A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096516A>C , CM000669.2:g.33096516A>C	GRCh38
NC_000007.13:g.33136128A>C , CM000669.1:g.33136128A>C	GRCh37
NC_000007.12:g.33102653A>C	NCBI36
NG_012968.1:g.17875T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2417T>G
ENST00000492391.2:n.1568T>G
ENST00000682645.1:n.3515T>G
ENST00000683432.1:c.*619T>G	ENSP00000508174.1:n.*619T>G
ENST00000684207.1:c.444T>G	ENSP00000506942.1:p.Asn148Lys
ENST00000297157.8:c.444T>G MANE Select	ENSP00000297157.3:p.Asn148Lys
ENST00000297157.7:c.444T>G	ENSP00000297157.3:p.Asn148Lys
ENST00000448915.1:c.342T>G	ENSP00000411577.1:p.Asn114Lys
NM_203288.1:c.444T>G	NP_976033.1:p.Asn148Lys
XM_011515468.1:c.342T>G	XP_011513770.1:p.Asn114Lys
XM_011515468.3:c.342T>G	XP_011513770.1:p.Asn114Lys
NM_203288.2:c.444T>G MANE Select	NP_976033.1:p.Asn148Lys