Canonical Allele Identifier: CA395914557

Gene: RPGRIP1L

Linked Data

• ClinVar Variation Id: 1003624
• ClinVar RCV Id: RCV001300198
• dbSNP Id: rs1051268898
• MyVariant Identifiers: chr16:g.53679753C>T (hg19) ; chr16:g.53645841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53645841C>T , CM000678.2:g.53645841C>T	GRCh38
NC_000016.9:g.53679753C>T , CM000678.1:g.53679753C>T	GRCh37
NC_000016.8:g.52237254C>T	NCBI36
NG_008991.2:g.63019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262135.9:c.2467G>A	ENSP00000262135.4:p.Ala823Thr
ENST00000565343.2:n.2891G>A
ENST00000621565.5:c.2467G>A	ENSP00000480698.1:p.Ala823Thr
ENST00000647211.2:c.2467G>A MANE Select	ENSP00000493946.1:p.Ala823Thr
ENST00000680193.1:c.2467G>A	ENSP00000506379.1:p.Ala823Thr
ENST00000262135.8:c.2467G>A	ENSP00000262135.4:p.Ala823Thr
ENST00000379925.7:c.2467G>A	ENSP00000369257.3:p.Ala823Thr
ENST00000563746.5:c.2467G>A	ENSP00000457889.1:p.Ala823Thr
ENST00000564374.5:c.2467G>A	ENSP00000456534.1:p.Ala823Thr
ENST00000621565.4:c.2467G>A	ENSP00000480698.1:p.Ala823Thr
NM_001127897.1:c.2467G>A	NP_001121369.1:p.Ala823Thr
NM_001127897.2:c.2467G>A	NP_001121369.1:p.Ala823Thr
NM_001308334.1:c.2467G>A	NP_001295263.1:p.Ala823Thr
NM_015272.2:c.2467G>A	NP_056087.2:p.Ala823Thr
NM_015272.3:c.2467G>A	NP_056087.2:p.Ala823Thr
XM_005255867.1:c.2467G>A	XP_005255924.1:p.Ala823Thr
XM_005255868.1:c.2479G>A	XP_005255925.1:p.Ala827Thr
XM_005255871.2:c.712G>A	XP_005255928.1:p.Ala238Thr
XM_011522968.1:c.2467G>A	XP_011521270.1:p.Ala823Thr
XM_011522969.1:c.2479G>A	XP_011521271.1:p.Ala827Thr
XM_011522970.1:c.2479G>A	XP_011521272.1:p.Ala827Thr
XM_011522971.1:c.2479G>A	XP_011521273.1:p.Ala827Thr
XM_011522972.1:c.2479G>A	XP_011521274.1:p.Ala827Thr
XM_011522973.1:c.2479G>A	XP_011521275.1:p.Ala827Thr
XM_011522974.1:c.712G>A	XP_011521276.1:p.Ala238Thr
XR_933260.1:n.2511G>A
NM_001127897.3:c.2467G>A	NP_001121369.1:p.Ala823Thr
NM_001308334.2:c.2467G>A	NP_001295263.1:p.Ala823Thr
NM_001330538.1:c.2467G>A	NP_001317467.1:p.Ala823Thr
NM_015272.4:c.2467G>A	NP_056087.2:p.Ala823Thr
XM_005255868.2:c.2479G>A	XP_005255925.1:p.Ala827Thr
XM_011522970.2:c.2479G>A	XP_011521272.1:p.Ala827Thr
XM_011522971.3:c.2479G>A	XP_011521273.1:p.Ala827Thr
XM_011522973.3:c.2479G>A	XP_011521275.1:p.Ala827Thr
XM_017023094.2:c.2479G>A	XP_016878583.1:p.Ala827Thr
XM_017023095.2:c.2479G>A	XP_016878584.1:p.Ala827Thr
XM_017023096.2:c.2479G>A	XP_016878585.1:p.Ala827Thr
XM_017023098.1:c.712G>A	XP_016878587.1:p.Ala238Thr
XM_017023099.1:c.712G>A	XP_016878588.1:p.Ala238Thr
XR_933260.3:n.2522G>A
NM_015272.5:c.2467G>A MANE Select	NP_056087.2:p.Ala823Thr
NM_001127897.4:c.2467G>A	NP_001121369.1:p.Ala823Thr
NM_001330538.2:c.2467G>A	NP_001317467.1:p.Ala823Thr
NM_001308334.3:c.2467G>A	NP_001295263.1:p.Ala823Thr