Canonical Allele Identifier: CA388867729

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 1975159
• ClinVar RCV Id: RCV002755538
• MyVariant Identifiers: chr14:g.21793062T>C (hg19) ; chr14:g.21324903T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324903T>C , CM000676.2:g.21324903T>C	GRCh38
NC_000014.8:g.21793062T>C , CM000676.1:g.21793062T>C	GRCh37
NC_000014.7:g.20862902T>C	NCBI36
NG_008933.1:g.41927T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.2048T>C MANE Select	ENSP00000382895.2:p.Val683Ala
ENST00000382933.8:c.689-2720T>C	ENSP00000372391.4:n.689-2720T>C
ENST00000400017.6:c.2048T>C	ENSP00000382895.2:p.Val683Ala
ENST00000553500.5:n.328+178T>C
ENST00000553927.1:n.980T>C
ENST00000555322.5:c.475T>C
ENST00000555489.5:c.241T>C	ENSP00000451044.1:n.241T>C
ENST00000555587.5:c.473T>C	ENSP00000451262.1:p.Val158Ala
ENST00000556336.5:c.1682-2720T>C	ENSP00000450445.1:n.1682-2720T>C
ENST00000557771.5:c.1934T>C	ENSP00000451219.1:p.Val645Ala
NM_020366.3:c.2048T>C	NP_065099.3:p.Val683Ala
XM_005267879.2:c.974T>C	XP_005267936.1:p.Val325Ala
XM_005267880.2:c.941T>C	XP_005267937.1:p.Val314Ala
XM_005267881.2:c.422T>C	XP_005267938.1:p.Val141Ala
XM_011536978.1:c.974T>C	XP_011535280.1:p.Val325Ala
XM_011536979.1:c.797-39T>C	XP_011535281.1:n.797-39T>C
XM_011536980.1:c.796+178T>C	XP_011535282.1:n.796+178T>C
XM_011536981.1:c.974T>C	XP_011535283.1:p.Val325Ala
XM_011536982.1:c.796+178T>C	XP_011535284.1:n.796+178T>C
XM_011536983.1:c.2015T>C	XP_011535285.1:p.Val672Ala
XM_005267881.3:c.422T>C	XP_005267938.1:p.Val141Ala
XM_017021473.1:c.974T>C	XP_016876962.1:p.Val325Ala
XM_024449663.1:c.974T>C	XP_024305431.1:p.Val325Ala
XM_024449664.1:c.974T>C	XP_024305432.1:p.Val325Ala
XM_024449665.1:c.796+178T>C	XP_024305433.1:n.796+178T>C
XM_024449666.1:c.796+178T>C	XP_024305434.1:n.796+178T>C
NM_001377523.1:c.689-2720T>C	NP_001364452.1:n.689-2720T>C
NM_001377948.1:c.974T>C	NP_001364877.1:p.Val325Ala
NM_001377949.1:c.796+178T>C	NP_001364878.1:n.796+178T>C
NM_001377950.1:c.689-2720T>C	NP_001364879.1:n.689-2720T>C
NM_001377951.1:c.191-2720T>C	NP_001364880.1:n.191-2720T>C
NM_020366.4:c.2048T>C MANE Select	NP_065099.3:p.Val683Ala