Canonical Allele Identifier: CA395923378

Gene: RPGRIP1L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53619047C>T , CM000678.2:g.53619047C>T	GRCh38
NC_000016.9:g.53652959C>T , CM000678.1:g.53652959C>T	GRCh37
NC_000016.8:g.52210460C>T	NCBI36
NG_008991.2:g.89813G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015272.5:c.3594G>A MANE Select	NP_056087.2:p.Trp1198Ter
ENST00000647211.2:c.3594G>A MANE Select	ENSP00000493946.1:p.Trp1198Ter
NM_001127897.1:c.3354G>A	NP_001121369.1:p.Trp1118Ter
NM_001127897.2:c.3354G>A	NP_001121369.1:p.Trp1118Ter
NM_001127897.3:c.3354G>A	NP_001121369.1:p.Trp1118Ter
NM_001127897.4:c.3354G>A	NP_001121369.1:p.Trp1118Ter
NM_001308334.1:c.3456G>A	NP_001295263.1:p.Trp1152Ter
NM_001308334.2:c.3456G>A	NP_001295263.1:p.Trp1152Ter
NM_001308334.3:c.3456G>A	NP_001295263.1:p.Trp1152Ter
NM_001330538.1:c.3492G>A	NP_001317467.1:p.Trp1164Ter
NM_001330538.2:c.3492G>A	NP_001317467.1:p.Trp1164Ter
NM_015272.2:c.3594G>A	NP_056087.2:p.Trp1198Ter
NM_015272.3:c.3594G>A	NP_056087.2:p.Trp1198Ter
NM_015272.4:c.3594G>A	NP_056087.2:p.Trp1198Ter
ENST00000262135.8:c.3354G>A	ENSP00000262135.4:p.Trp1118Ter
ENST00000262135.9:c.3354G>A	ENSP00000262135.4:p.Trp1118Ter
ENST00000379925.7:c.3594G>A	ENSP00000369257.3:p.Trp1198Ter
ENST00000563746.5:c.3492G>A	ENSP00000457889.1:p.Trp1164Ter
ENST00000564374.5:c.3456G>A	ENSP00000456534.1:p.Trp1152Ter
ENST00000565343.2:n.4018G>A
ENST00000621565.4:c.3456G>A	ENSP00000480698.1:p.Trp1152Ter
ENST00000621565.5:c.3456G>A	ENSP00000480698.1:p.Trp1152Ter
ENST00000680193.1:c.*354G>A	ENSP00000506379.1:n.*354G>A
ENST00000681587.1:n.1366G>A
XM_005255867.1:c.3492G>A	XP_005255924.1:p.Trp1164Ter
XM_005255868.1:c.3468G>A	XP_005255925.1:p.Trp1156Ter
XM_005255868.2:c.3468G>A	XP_005255925.1:p.Trp1156Ter
XM_005255871.2:c.1701G>A	XP_005255928.1:p.Trp567Ter
XM_011522968.1:c.3594G>A	XP_011521270.1:p.Trp1198Ter
XM_011522969.1:c.3468G>A	XP_011521271.1:p.Trp1156Ter
XM_011522974.1:c.1701G>A	XP_011521276.1:p.Trp567Ter
XM_017023094.2:c.3606G>A	XP_016878583.1:p.Trp1202Ter
XM_017023095.2:c.3366G>A	XP_016878584.1:p.Trp1122Ter
XM_017023096.2:c.3468G>A	XP_016878585.1:p.Trp1156Ter
XM_017023098.1:c.1839G>A	XP_016878587.1:p.Trp613Ter
XM_017023099.1:c.1839G>A	XP_016878588.1:p.Trp613Ter
XR_933260.1:n.3500G>A
XR_933260.3:n.3511G>A