Canonical Allele Identifier: CA395923784

Gene: RPGRIP1L

Linked Data

• MyVariant Identifiers: chr16:g.53720372A>T (hg19) ; chr16:g.53686460A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53686460A>T , CM000678.2:g.53686460A>T	GRCh38
NC_000016.9:g.53720372A>T , CM000678.1:g.53720372A>T	GRCh37
NC_000016.8:g.52277873A>T	NCBI36
NG_008991.2:g.22400T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262135.9:c.749T>A	ENSP00000262135.4:p.Leu250His
ENST00000621565.5:c.749T>A	ENSP00000480698.1:p.Leu250His
ENST00000647211.2:c.749T>A MANE Select	ENSP00000493946.1:p.Leu250His
ENST00000680193.1:c.749T>A	ENSP00000506379.1:p.Leu250His
ENST00000680907.1:n.792T>A
ENST00000262135.8:c.749T>A	ENSP00000262135.4:p.Leu250His
ENST00000379925.7:c.749T>A	ENSP00000369257.3:p.Leu250His
ENST00000562230.5:c.749T>A	ENSP00000455295.1:p.Leu250His
ENST00000563746.5:c.749T>A	ENSP00000457889.1:p.Leu250His
ENST00000564374.5:c.749T>A	ENSP00000456534.1:p.Leu250His
ENST00000621565.4:c.749T>A	ENSP00000480698.1:p.Leu250His
NM_001127897.1:c.749T>A	NP_001121369.1:p.Leu250His
NM_001127897.2:c.749T>A	NP_001121369.1:p.Leu250His
NM_001308334.1:c.749T>A	NP_001295263.1:p.Leu250His
NM_015272.2:c.749T>A	NP_056087.2:p.Leu250His
NM_015272.3:c.749T>A	NP_056087.2:p.Leu250His
XM_005255867.1:c.749T>A	XP_005255924.1:p.Leu250His
XM_005255868.1:c.749T>A	XP_005255925.1:p.Leu250His
XM_011522968.1:c.749T>A	XP_011521270.1:p.Leu250His
XM_011522969.1:c.749T>A	XP_011521271.1:p.Leu250His
XM_011522970.1:c.749T>A	XP_011521272.1:p.Leu250His
XM_011522971.1:c.749T>A	XP_011521273.1:p.Leu250His
XM_011522972.1:c.749T>A	XP_011521274.1:p.Leu250His
XM_011522973.1:c.749T>A	XP_011521275.1:p.Leu250His
XR_933260.1:n.781T>A
NM_001127897.3:c.749T>A	NP_001121369.1:p.Leu250His
NM_001308334.2:c.749T>A	NP_001295263.1:p.Leu250His
NM_001330538.1:c.749T>A	NP_001317467.1:p.Leu250His
NM_015272.4:c.749T>A	NP_056087.2:p.Leu250His
XM_005255868.2:c.749T>A	XP_005255925.1:p.Leu250His
XM_011522970.2:c.749T>A	XP_011521272.1:p.Leu250His
XM_011522971.3:c.749T>A	XP_011521273.1:p.Leu250His
XM_011522973.3:c.749T>A	XP_011521275.1:p.Leu250His
XM_017023094.2:c.749T>A	XP_016878583.1:p.Leu250His
XM_017023095.2:c.749T>A	XP_016878584.1:p.Leu250His
XM_017023096.2:c.749T>A	XP_016878585.1:p.Leu250His
XM_017023097.2:c.749T>A	XP_016878586.1:p.Leu250His
XM_017023100.2:c.749T>A	XP_016878589.1:p.Leu250His
XR_933260.3:n.792T>A
NM_015272.5:c.749T>A MANE Select	NP_056087.2:p.Leu250His
NM_001127897.4:c.749T>A	NP_001121369.1:p.Leu250His
NM_001330538.2:c.749T>A	NP_001317467.1:p.Leu250His
NM_001308334.3:c.749T>A	NP_001295263.1:p.Leu250His