Canonical Allele Identifier: CA388862859

Gene: RPGRIP1

Linked Data

• MyVariant Identifiers: chr14:g.21780638A>T (hg19) ; chr14:g.21312479A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312479A>T , CM000676.2:g.21312479A>T	GRCh38
NC_000014.8:g.21780638A>T , CM000676.1:g.21780638A>T	GRCh37
NC_000014.7:g.20850478A>T	NCBI36
NG_008933.1:g.29503A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1124A>T MANE Select	ENSP00000382895.2:p.Asn375Ile
ENST00000400017.6:c.1124A>T	ENSP00000382895.2:p.Asn375Ile
ENST00000556336.5:c.1043A>T	ENSP00000450445.1:p.Asn348Ile
ENST00000557771.5:c.1043A>T	ENSP00000451219.1:p.Asn348Ile
NM_020366.3:c.1124A>T	NP_065099.3:p.Asn375Ile
XM_011536983.1:c.1091A>T	XP_011535285.1:p.Asn364Ile
NM_020366.4:c.1124A>T MANE Select	NP_065099.3:p.Asn375Ile