Canonical Allele Identifier: CA395923779

Gene: RPGRIP1L

Linked Data

• MyVariant Identifiers: chr16:g.53720369C>A (hg19) ; chr16:g.53686457C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53686457C>A , CM000678.2:g.53686457C>A	GRCh38
NC_000016.9:g.53720369C>A , CM000678.1:g.53720369C>A	GRCh37
NC_000016.8:g.52277870C>A	NCBI36
NG_008991.2:g.22403G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262135.9:c.752G>T	ENSP00000262135.4:p.Arg251Leu
ENST00000621565.5:c.752G>T	ENSP00000480698.1:p.Arg251Leu
ENST00000647211.2:c.752G>T MANE Select	ENSP00000493946.1:p.Arg251Leu
ENST00000680193.1:c.752G>T	ENSP00000506379.1:p.Arg251Leu
ENST00000680907.1:n.795G>T
ENST00000262135.8:c.752G>T	ENSP00000262135.4:p.Arg251Leu
ENST00000379925.7:c.752G>T	ENSP00000369257.3:p.Arg251Leu
ENST00000562230.5:c.752G>T	ENSP00000455295.1:p.Arg251Leu
ENST00000563746.5:c.752G>T	ENSP00000457889.1:p.Arg251Leu
ENST00000564374.5:c.752G>T	ENSP00000456534.1:p.Arg251Leu
ENST00000621565.4:c.752G>T	ENSP00000480698.1:p.Arg251Leu
NM_001127897.1:c.752G>T	NP_001121369.1:p.Arg251Leu
NM_001127897.2:c.752G>T	NP_001121369.1:p.Arg251Leu
NM_001308334.1:c.752G>T	NP_001295263.1:p.Arg251Leu
NM_015272.2:c.752G>T	NP_056087.2:p.Arg251Leu
NM_015272.3:c.752G>T	NP_056087.2:p.Arg251Leu
XM_005255867.1:c.752G>T	XP_005255924.1:p.Arg251Leu
XM_005255868.1:c.752G>T	XP_005255925.1:p.Arg251Leu
XM_011522968.1:c.752G>T	XP_011521270.1:p.Arg251Leu
XM_011522969.1:c.752G>T	XP_011521271.1:p.Arg251Leu
XM_011522970.1:c.752G>T	XP_011521272.1:p.Arg251Leu
XM_011522971.1:c.752G>T	XP_011521273.1:p.Arg251Leu
XM_011522972.1:c.752G>T	XP_011521274.1:p.Arg251Leu
XM_011522973.1:c.752G>T	XP_011521275.1:p.Arg251Leu
XR_933260.1:n.784G>T
NM_001127897.3:c.752G>T	NP_001121369.1:p.Arg251Leu
NM_001308334.2:c.752G>T	NP_001295263.1:p.Arg251Leu
NM_001330538.1:c.752G>T	NP_001317467.1:p.Arg251Leu
NM_015272.4:c.752G>T	NP_056087.2:p.Arg251Leu
XM_005255868.2:c.752G>T	XP_005255925.1:p.Arg251Leu
XM_011522970.2:c.752G>T	XP_011521272.1:p.Arg251Leu
XM_011522971.3:c.752G>T	XP_011521273.1:p.Arg251Leu
XM_011522973.3:c.752G>T	XP_011521275.1:p.Arg251Leu
XM_017023094.2:c.752G>T	XP_016878583.1:p.Arg251Leu
XM_017023095.2:c.752G>T	XP_016878584.1:p.Arg251Leu
XM_017023096.2:c.752G>T	XP_016878585.1:p.Arg251Leu
XM_017023097.2:c.752G>T	XP_016878586.1:p.Arg251Leu
XM_017023100.2:c.752G>T	XP_016878589.1:p.Arg251Leu
XR_933260.3:n.795G>T
NM_015272.5:c.752G>T MANE Select	NP_056087.2:p.Arg251Leu
NM_001127897.4:c.752G>T	NP_001121369.1:p.Arg251Leu
NM_001330538.2:c.752G>T	NP_001317467.1:p.Arg251Leu
NM_001308334.3:c.752G>T	NP_001295263.1:p.Arg251Leu