Canonical Allele Identifier: CA484991207

Gene: RPGRIP1

Linked Data

• MyVariant Identifiers: chr14:g.21780657C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312498C>G , CM000676.2:g.21312498C>G	GRCh38
NC_000014.8:g.21780657C>G , CM000676.1:g.21780657C>G	GRCh37
NC_000014.7:g.20850497C>G	NCBI36
NG_008933.1:g.29522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1143C>G MANE Select	ENSP00000382895.2:p.Leu381=
ENST00000400017.6:c.1143C>G	ENSP00000382895.2:p.Leu381=
ENST00000556336.5:c.1062C>G	ENSP00000450445.1:p.Leu354=
ENST00000557771.5:c.1062C>G	ENSP00000451219.1:p.Leu354=
NM_020366.3:c.1143C>G	NP_065099.3:p.Leu381=
XM_011536983.1:c.1110C>G	XP_011535285.1:p.Leu370=
NM_020366.4:c.1143C>G MANE Select	NP_065099.3:p.Leu381=