Canonical Allele Identifier: CA2223239672

Gene: RPGRIP1L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53602021A= , CM000678.2:g.53602021A=	GRCh38
NC_000016.9:g.53635933A= , CM000678.1:g.53635933A=	GRCh37
NC_000016.8:g.52193434A=	NCBI36
NG_008991.2:g.106839T=

Transcript Alleles

HGVS	Amino-acid Change
NM_015272.5:c.*55T= MANE Select	NP_056087.2:n.*55T=
ENST00000647211.2:c.*55T= MANE Select	ENSP00000493946.1:n.*55T=
NM_001127897.1:c.*55T=	NP_001121369.1:n.*55T=
NM_001127897.2:c.*55T=	NP_001121369.1:n.*55T=
NM_001127897.3:c.*55T=	NP_001121369.1:n.*55T=
NM_001127897.4:c.*55T=	NP_001121369.1:n.*55T=
NM_001308334.1:c.*55T=	NP_001295263.1:n.*55T=
NM_001308334.2:c.*55T=	NP_001295263.1:n.*55T=
NM_001308334.3:c.*55T=	NP_001295263.1:n.*55T=
NM_001330538.1:c.*55T=	NP_001317467.1:n.*55T=
NM_001330538.2:c.*55T=	NP_001317467.1:n.*55T=
NM_015272.2:c.*55T=	NP_056087.2:n.*55T=
NM_015272.3:c.*55T=	NP_056087.2:n.*55T=
NM_015272.4:c.*55T=	NP_056087.2:n.*55T=
ENST00000262135.8:c.*55T=	ENSP00000262135.4:n.*55T=
ENST00000262135.9:c.*55T=	ENSP00000262135.4:n.*55T=
ENST00000379925.7:c.*55T=	ENSP00000369257.3:n.*55T=
ENST00000563746.5:c.*55T=	ENSP00000457889.1:n.*55T=
ENST00000565343.2:n.4427T=
ENST00000621565.4:c.*55T=	ENSP00000480698.1:n.*55T=
ENST00000621565.5:c.*55T=	ENSP00000480698.1:n.*55T=
ENST00000680193.1:c.*763T=	ENSP00000506379.1:n.*763T=
ENST00000681587.1:n.1775T=
XM_005255867.1:c.*55T=	XP_005255924.1:n.*55T=
XM_005255868.1:c.*55T=	XP_005255925.1:n.*55T=
XM_005255868.2:c.*55T=	XP_005255925.1:n.*55T=
XM_005255871.2:c.*55T=	XP_005255928.1:n.*55T=
XM_011522968.1:c.*55T=	XP_011521270.1:n.*55T=
XM_011522974.1:c.*55T=	XP_011521276.1:n.*55T=
XM_017023094.2:c.*55T=	XP_016878583.1:n.*55T=
XM_017023095.2:c.*55T=	XP_016878584.1:n.*55T=
XM_017023098.1:c.*55T=	XP_016878587.1:n.*55T=
XM_017023099.1:c.*55T=	XP_016878588.1:n.*55T=