Canonical Allele Identifier: CA281347621

Gene: RPGRIP1L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53601585G>C , CM000678.2:g.53601585G>C	GRCh38
NC_000016.9:g.53635497G>C , CM000678.1:g.53635497G>C	GRCh37
NC_000016.8:g.52192998G>C	NCBI36
NG_008991.2:g.107275C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015272.5:c.*491C>G MANE Select	NP_056087.2:n.*491C>G
ENST00000647211.2:c.*491C>G MANE Select	ENSP00000493946.1:n.*491C>G
NM_001127897.1:c.*491C>G	NP_001121369.1:n.*491C>G
NM_001127897.2:c.*491C>G	NP_001121369.1:n.*491C>G
NM_001127897.3:c.*491C>G	NP_001121369.1:n.*491C>G
NM_001127897.4:c.*491C>G	NP_001121369.1:n.*491C>G
NM_001308334.1:c.*491C>G	NP_001295263.1:n.*491C>G
NM_001308334.2:c.*491C>G	NP_001295263.1:n.*491C>G
NM_001308334.3:c.*491C>G	NP_001295263.1:n.*491C>G
NM_001330538.1:c.*491C>G	NP_001317467.1:n.*491C>G
NM_001330538.2:c.*491C>G	NP_001317467.1:n.*491C>G
NM_015272.2:c.*491C>G	NP_056087.2:n.*491C>G
NM_015272.3:c.*491C>G	NP_056087.2:n.*491C>G
NM_015272.4:c.*491C>G	NP_056087.2:n.*491C>G
ENST00000262135.8:c.*491C>G	ENSP00000262135.4:n.*491C>G
ENST00000262135.9:c.*491C>G	ENSP00000262135.4:n.*491C>G
ENST00000379925.7:c.*491C>G	ENSP00000369257.3:n.*491C>G
ENST00000565343.2:n.4863C>G
ENST00000621565.4:c.*491C>G	ENSP00000480698.1:n.*491C>G
ENST00000621565.5:c.*491C>G	ENSP00000480698.1:n.*491C>G
ENST00000680193.1:c.*1199C>G	ENSP00000506379.1:n.*1199C>G
ENST00000681587.1:n.2211C>G
XM_005255867.1:c.*491C>G	XP_005255924.1:n.*491C>G
XM_005255868.1:c.*491C>G	XP_005255925.1:n.*491C>G
XM_005255868.2:c.*491C>G	XP_005255925.1:n.*491C>G
XM_005255871.2:c.*491C>G	XP_005255928.1:n.*491C>G
XM_011522968.1:c.*491C>G	XP_011521270.1:n.*491C>G
XM_011522974.1:c.*491C>G	XP_011521276.1:n.*491C>G
XM_017023094.2:c.*491C>G	XP_016878583.1:n.*491C>G
XM_017023095.2:c.*491C>G	XP_016878584.1:n.*491C>G
XM_017023098.1:c.*491C>G	XP_016878587.1:n.*491C>G
XM_017023099.1:c.*491C>G	XP_016878588.1:n.*491C>G