Canonical Allele Identifier: CA2122460481

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324880C= , CM000676.2:g.21324880C=	GRCh38
NC_000014.8:g.21793039C= , CM000676.1:g.21793039C=	GRCh37
NC_000014.7:g.20862879C=	NCBI36
NG_008933.1:g.41904C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.2025C= MANE Select	ENSP00000382895.2:p.Leu675=
ENST00000382933.8:c.689-2743C=	ENSP00000372391.4:n.689-2743C=
ENST00000400017.6:c.2025C=	ENSP00000382895.2:p.Leu675=
ENST00000553500.5:n.328+155C=
ENST00000553927.1:n.957C=
ENST00000554303.1:c.411C=	ENSP00000450426.1:p.Leu137=
ENST00000555322.5:c.452C=
ENST00000555489.5:c.218C=	ENSP00000451044.1:n.218C=
ENST00000555587.5:c.450C=	ENSP00000451262.1:p.Leu150=
ENST00000556336.5:c.1682-2743C=	ENSP00000450445.1:n.1682-2743C=
ENST00000557771.5:c.1911C=	ENSP00000451219.1:p.Leu637=
NM_020366.3:c.2025C=	NP_065099.3:p.Leu675=
XM_005267879.2:c.951C=	XP_005267936.1:p.Leu317=
XM_005267880.2:c.918C=	XP_005267937.1:p.Leu306=
XM_005267881.2:c.399C=	XP_005267938.1:p.Leu133=
XM_011536978.1:c.951C=	XP_011535280.1:p.Leu317=
XM_011536979.1:c.797-62C=	XP_011535281.1:n.797-62C=
XM_011536980.1:c.796+155C=	XP_011535282.1:n.796+155C=
XM_011536981.1:c.951C=	XP_011535283.1:p.Leu317=
XM_011536982.1:c.796+155C=	XP_011535284.1:n.796+155C=
XM_011536983.1:c.1992C=	XP_011535285.1:p.Leu664=
XM_005267881.3:c.399C=	XP_005267938.1:p.Leu133=
XM_017021473.1:c.951C=	XP_016876962.1:p.Leu317=
XM_024449663.1:c.951C=	XP_024305431.1:p.Leu317=
XM_024449664.1:c.951C=	XP_024305432.1:p.Leu317=
XM_024449665.1:c.796+155C=	XP_024305433.1:n.796+155C=
XM_024449666.1:c.796+155C=	XP_024305434.1:n.796+155C=
NM_001377523.1:c.689-2743C=	NP_001364452.1:n.689-2743C=
NM_001377948.1:c.951C=	NP_001364877.1:p.Leu317=
NM_001377949.1:c.796+155C=	NP_001364878.1:n.796+155C=
NM_001377950.1:c.689-2743C=	NP_001364879.1:n.689-2743C=
NM_001377951.1:c.191-2743C=	NP_001364880.1:n.191-2743C=
NM_020366.4:c.2025C= MANE Select	NP_065099.3:p.Leu675=