Canonical Allele Identifier: CA395923317

Gene: RPGRIP1L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53619023A>G , CM000678.2:g.53619023A>G	GRCh38
NC_000016.9:g.53652935A>G , CM000678.1:g.53652935A>G	GRCh37
NC_000016.8:g.52210436A>G	NCBI36
NG_008991.2:g.89837T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015272.5:c.3616+2T>C MANE Select	NP_056087.2:n.3616+2T>C
ENST00000647211.2:c.3616+2T>C MANE Select	ENSP00000493946.1:n.3616+2T>C
NM_001127897.1:c.3376+2T>C	NP_001121369.1:n.3376+2T>C
NM_001127897.2:c.3376+2T>C	NP_001121369.1:n.3376+2T>C
NM_001127897.3:c.3376+2T>C	NP_001121369.1:n.3376+2T>C
NM_001127897.4:c.3376+2T>C	NP_001121369.1:n.3376+2T>C
NM_001308334.1:c.3478+2T>C	NP_001295263.1:n.3478+2T>C
NM_001308334.2:c.3478+2T>C	NP_001295263.1:n.3478+2T>C
NM_001308334.3:c.3478+2T>C	NP_001295263.1:n.3478+2T>C
NM_001330538.1:c.3514+2T>C	NP_001317467.1:n.3514+2T>C
NM_001330538.2:c.3514+2T>C	NP_001317467.1:n.3514+2T>C
NM_015272.2:c.3616+2T>C	NP_056087.2:n.3616+2T>C
NM_015272.3:c.3616+2T>C	NP_056087.2:n.3616+2T>C
NM_015272.4:c.3616+2T>C	NP_056087.2:n.3616+2T>C
ENST00000262135.8:c.3376+2T>C	ENSP00000262135.4:n.3376+2T>C
ENST00000262135.9:c.3376+2T>C	ENSP00000262135.4:n.3376+2T>C
ENST00000379925.7:c.3616+2T>C	ENSP00000369257.3:n.3616+2T>C
ENST00000563746.5:c.3514+2T>C	ENSP00000457889.1:n.3514+2T>C
ENST00000564374.5:c.3478+2T>C	ENSP00000456534.1:n.3478+2T>C
ENST00000565343.2:n.4040+2T>C
ENST00000621565.4:c.3478+2T>C	ENSP00000480698.1:n.3478+2T>C
ENST00000621565.5:c.3478+2T>C	ENSP00000480698.1:n.3478+2T>C
ENST00000680193.1:c.*376+2T>C	ENSP00000506379.1:n.*376+2T>C
ENST00000681587.1:n.1388+2T>C
XM_005255867.1:c.3514+2T>C	XP_005255924.1:n.3514+2T>C
XM_005255868.1:c.3490+2T>C	XP_005255925.1:n.3490+2T>C
XM_005255868.2:c.3490+2T>C	XP_005255925.1:n.3490+2T>C
XM_005255871.2:c.1723+2T>C	XP_005255928.1:n.1723+2T>C
XM_011522968.1:c.3616+2T>C	XP_011521270.1:n.3616+2T>C
XM_011522969.1:c.3490+2T>C	XP_011521271.1:n.3490+2T>C
XM_011522974.1:c.1723+2T>C	XP_011521276.1:n.1723+2T>C
XM_017023094.2:c.3628+2T>C	XP_016878583.1:n.3628+2T>C
XM_017023095.2:c.3388+2T>C	XP_016878584.1:n.3388+2T>C
XM_017023096.2:c.3490+2T>C	XP_016878585.1:n.3490+2T>C
XM_017023098.1:c.1861+2T>C	XP_016878587.1:n.1861+2T>C
XM_017023099.1:c.1861+2T>C	XP_016878588.1:n.1861+2T>C
XR_933260.1:n.3522+2T>C
XR_933260.3:n.3533+2T>C