Canonical Allele Identifier: CA388862755

Gene: RPGRIP1

Linked Data

• COSMIC: COSM954373
• MyVariant Identifiers: chr14:g.21780610G>T (hg19) ; chr14:g.21312451G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312451G>T , CM000676.2:g.21312451G>T	GRCh38
NC_000014.8:g.21780610G>T , CM000676.1:g.21780610G>T	GRCh37
NC_000014.7:g.20850450G>T	NCBI36
NG_008933.1:g.29475G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1096G>T MANE Select	ENSP00000382895.2:p.Asp366Tyr
ENST00000400017.6:c.1096G>T	ENSP00000382895.2:p.Asp366Tyr
ENST00000556336.5:c.1015G>T	ENSP00000450445.1:p.Asp339Tyr
ENST00000557771.5:c.1015G>T	ENSP00000451219.1:p.Asp339Tyr
NM_020366.3:c.1096G>T	NP_065099.3:p.Asp366Tyr
XM_011536983.1:c.1063G>T	XP_011535285.1:p.Asp355Tyr
NM_020366.4:c.1096G>T MANE Select	NP_065099.3:p.Asp366Tyr