Canonical Allele Identifier: CA395923935

Gene: RPGRIP1L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53622221G>A , CM000678.2:g.53622221G>A	GRCh38
NC_000016.9:g.53656133G>A , CM000678.1:g.53656133G>A	GRCh37
NC_000016.8:g.52213634G>A	NCBI36
NG_008991.2:g.86639C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015272.5:c.3430C>T MANE Select	NP_056087.2:p.Gln1144Ter
ENST00000647211.2:c.3430C>T MANE Select	ENSP00000493946.1:p.Gln1144Ter
NM_001127897.1:c.3193-3013C>T	NP_001121369.1:n.3193-3013C>T
NM_001127897.2:c.3193-3013C>T	NP_001121369.1:n.3193-3013C>T
NM_001127897.3:c.3193-3013C>T	NP_001121369.1:n.3193-3013C>T
NM_001127897.4:c.3193-3013C>T	NP_001121369.1:n.3193-3013C>T
NM_001308334.1:c.3295-3013C>T	NP_001295263.1:n.3295-3013C>T
NM_001308334.2:c.3295-3013C>T	NP_001295263.1:n.3295-3013C>T
NM_001308334.3:c.3295-3013C>T	NP_001295263.1:n.3295-3013C>T
NM_001330538.1:c.3328C>T	NP_001317467.1:p.Gln1110Ter
NM_001330538.2:c.3328C>T	NP_001317467.1:p.Gln1110Ter
NM_015272.2:c.3430C>T	NP_056087.2:p.Gln1144Ter
NM_015272.3:c.3430C>T	NP_056087.2:p.Gln1144Ter
NM_015272.4:c.3430C>T	NP_056087.2:p.Gln1144Ter
ENST00000262135.8:c.3193-3013C>T	ENSP00000262135.4:n.3193-3013C>T
ENST00000262135.9:c.3193-3013C>T	ENSP00000262135.4:n.3193-3013C>T
ENST00000379925.7:c.3430C>T	ENSP00000369257.3:p.Gln1144Ter
ENST00000563746.5:c.3328C>T	ENSP00000457889.1:p.Gln1110Ter
ENST00000564374.5:c.3295-3013C>T	ENSP00000456534.1:n.3295-3013C>T
ENST00000565343.2:n.3854C>T
ENST00000621565.4:c.3295-3013C>T	ENSP00000480698.1:n.3295-3013C>T
ENST00000621565.5:c.3295-3013C>T	ENSP00000480698.1:n.3295-3013C>T
ENST00000680193.1:c.*190C>T	ENSP00000506379.1:n.*190C>T
ENST00000681587.1:n.1205-3013C>T
XM_005255867.1:c.3328C>T	XP_005255924.1:p.Gln1110Ter
XM_005255868.1:c.3307-3013C>T	XP_005255925.1:n.3307-3013C>T
XM_005255868.2:c.3307-3013C>T	XP_005255925.1:n.3307-3013C>T
XM_005255871.2:c.1540-3013C>T	XP_005255928.1:n.1540-3013C>T
XM_011522968.1:c.3430C>T	XP_011521270.1:p.Gln1144Ter
XM_011522969.1:c.3307-3013C>T	XP_011521271.1:n.3307-3013C>T
XM_011522974.1:c.1540-3013C>T	XP_011521276.1:n.1540-3013C>T
XM_017023094.2:c.3442C>T	XP_016878583.1:p.Gln1148Ter
XM_017023095.2:c.3205-3013C>T	XP_016878584.1:n.3205-3013C>T
XM_017023096.2:c.3307-3013C>T	XP_016878585.1:n.3307-3013C>T
XM_017023098.1:c.1675C>T	XP_016878587.1:p.Gln559Ter
XM_017023099.1:c.1675C>T	XP_016878588.1:p.Gln559Ter
XR_933260.1:n.3339-3013C>T
XR_933260.3:n.3350-3013C>T