Canonical Allele Identifier: CA8057344

Gene: RPGRIP1L

Linked Data

• ClinVar Variation Id: 389310
• ClinVar RCV Id: RCV000438977 ; RCV001120235 ; RCV001120236 ; RCV001120237 ; RCV002522503 ; RCV004533096
• dbSNP Id: rs376659273
• ExAC: 16:53671594 A / G
• gnomAD v2: 16-53671594-A-G
• gnomAD v3: 16-53637682-A-G
• gnomAD v4: 16-53637682-A-G
• MyVariant Identifiers: chr16:g.53671594A>G (hg19) ; chr16:g.53637682A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53637682A>G , CM000678.2:g.53637682A>G	GRCh38
NC_000016.9:g.53671594A>G , CM000678.1:g.53671594A>G	GRCh37
NC_000016.8:g.52229095A>G	NCBI36
NG_008991.2:g.71178T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262135.9:c.3118+13T>C	ENSP00000262135.4:n.3118+13T>C
ENST00000565343.2:n.3644+13T>C
ENST00000621565.5:c.3220+13T>C	ENSP00000480698.1:n.3220+13T>C
ENST00000647211.2:c.3220+13T>C MANE Select	ENSP00000493946.1:n.3220+13T>C
ENST00000680193.1:c.3220+13T>C	ENSP00000506379.1:n.3220+13T>C
ENST00000681587.1:n.1130+13T>C
ENST00000262135.8:c.3118+13T>C	ENSP00000262135.4:n.3118+13T>C
ENST00000379925.7:c.3220+13T>C	ENSP00000369257.3:n.3220+13T>C
ENST00000563746.5:c.3118+13T>C	ENSP00000457889.1:n.3118+13T>C
ENST00000564374.5:c.3220+13T>C	ENSP00000456534.1:n.3220+13T>C
ENST00000568009.1:n.225+13T>C
ENST00000621565.4:c.3220+13T>C	ENSP00000480698.1:n.3220+13T>C
NM_001127897.1:c.3118+13T>C	NP_001121369.1:n.3118+13T>C
NM_001127897.2:c.3118+13T>C	NP_001121369.1:n.3118+13T>C
NM_001308334.1:c.3220+13T>C	NP_001295263.1:n.3220+13T>C
NM_015272.2:c.3220+13T>C	NP_056087.2:n.3220+13T>C
NM_015272.3:c.3220+13T>C	NP_056087.2:n.3220+13T>C
XM_005255867.1:c.3118+13T>C	XP_005255924.1:n.3118+13T>C
XM_005255868.1:c.3232+13T>C	XP_005255925.1:n.3232+13T>C
XM_005255871.2:c.1465+13T>C	XP_005255928.1:n.1465+13T>C
XM_011522968.1:c.3220+13T>C	XP_011521270.1:n.3220+13T>C
XM_011522969.1:c.3232+13T>C	XP_011521271.1:n.3232+13T>C
XM_011522970.1:c.3232+13T>C	XP_011521272.1:n.3232+13T>C
XM_011522971.1:c.3232+13T>C	XP_011521273.1:n.3232+13T>C
XM_011522972.1:c.3232+13T>C	XP_011521274.1:n.3232+13T>C
XM_011522973.1:c.3232+13T>C	XP_011521275.1:n.3232+13T>C
XM_011522974.1:c.1465+13T>C	XP_011521276.1:n.1465+13T>C
XR_933260.1:n.3264+13T>C
NM_001127897.3:c.3118+13T>C	NP_001121369.1:n.3118+13T>C
NM_001308334.2:c.3220+13T>C	NP_001295263.1:n.3220+13T>C
NM_001330538.1:c.3118+13T>C	NP_001317467.1:n.3118+13T>C
NM_015272.4:c.3220+13T>C	NP_056087.2:n.3220+13T>C
XM_005255868.2:c.3232+13T>C	XP_005255925.1:n.3232+13T>C
XM_011522970.2:c.3232+13T>C	XP_011521272.1:n.3232+13T>C
XM_011522971.3:c.3232+13T>C	XP_011521273.1:n.3232+13T>C
XM_011522973.3:c.3232+13T>C	XP_011521275.1:n.3232+13T>C
XM_017023094.2:c.3232+13T>C	XP_016878583.1:n.3232+13T>C
XM_017023095.2:c.3130+13T>C	XP_016878584.1:n.3130+13T>C
XM_017023096.2:c.3232+13T>C	XP_016878585.1:n.3232+13T>C
XM_017023098.1:c.1465+13T>C	XP_016878587.1:n.1465+13T>C
XM_017023099.1:c.1465+13T>C	XP_016878588.1:n.1465+13T>C
XR_933260.3:n.3275+13T>C
NM_015272.5:c.3220+13T>C MANE Select	NP_056087.2:n.3220+13T>C
NM_001127897.4:c.3118+13T>C	NP_001121369.1:n.3118+13T>C
NM_001330538.2:c.3118+13T>C	NP_001317467.1:n.3118+13T>C
NM_001308334.3:c.3220+13T>C	NP_001295263.1:n.3220+13T>C