Canonical Allele Identifier: CA2576083259

Gene: RPGRIP1L

Linked Data

• gnomAD v4: 16-53686380-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53686380G>T , CM000678.2:g.53686380G>T	GRCh38
NC_000016.9:g.53720292G>T , CM000678.1:g.53720292G>T	GRCh37
NC_000016.8:g.52277793G>T	NCBI36
NG_008991.2:g.22480C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262135.9:c.776+53C>A	ENSP00000262135.4:n.776+53C>A
ENST00000621565.5:c.776+53C>A	ENSP00000480698.1:n.776+53C>A
ENST00000647211.2:c.776+53C>A MANE Select	ENSP00000493946.1:n.776+53C>A
ENST00000680193.1:c.776+53C>A	ENSP00000506379.1:n.776+53C>A
ENST00000680907.1:n.819+53C>A
ENST00000262135.8:c.776+53C>A	ENSP00000262135.4:n.776+53C>A
ENST00000379925.7:c.776+53C>A	ENSP00000369257.3:n.776+53C>A
ENST00000562230.5:c.776+53C>A	ENSP00000455295.1:n.776+53C>A
ENST00000563746.5:c.776+53C>A	ENSP00000457889.1:n.776+53C>A
ENST00000564374.5:c.776+53C>A	ENSP00000456534.1:n.776+53C>A
ENST00000621565.4:c.776+53C>A	ENSP00000480698.1:n.776+53C>A
NM_001127897.1:c.776+53C>A	NP_001121369.1:n.776+53C>A
NM_001127897.2:c.776+53C>A	NP_001121369.1:n.776+53C>A
NM_001308334.1:c.776+53C>A	NP_001295263.1:n.776+53C>A
NM_015272.2:c.776+53C>A	NP_056087.2:n.776+53C>A
NM_015272.3:c.776+53C>A	NP_056087.2:n.776+53C>A
XM_005255867.1:c.776+53C>A	XP_005255924.1:n.776+53C>A
XM_005255868.1:c.776+53C>A	XP_005255925.1:n.776+53C>A
XM_011522968.1:c.776+53C>A	XP_011521270.1:n.776+53C>A
XM_011522969.1:c.776+53C>A	XP_011521271.1:n.776+53C>A
XM_011522970.1:c.776+53C>A	XP_011521272.1:n.776+53C>A
XM_011522971.1:c.776+53C>A	XP_011521273.1:n.776+53C>A
XM_011522972.1:c.776+53C>A	XP_011521274.1:n.776+53C>A
XM_011522973.1:c.776+53C>A	XP_011521275.1:n.776+53C>A
XR_933260.1:n.808+53C>A
NM_001127897.3:c.776+53C>A	NP_001121369.1:n.776+53C>A
NM_001308334.2:c.776+53C>A	NP_001295263.1:n.776+53C>A
NM_001330538.1:c.776+53C>A	NP_001317467.1:n.776+53C>A
NM_015272.4:c.776+53C>A	NP_056087.2:n.776+53C>A
XM_005255868.2:c.776+53C>A	XP_005255925.1:n.776+53C>A
XM_011522970.2:c.776+53C>A	XP_011521272.1:n.776+53C>A
XM_011522971.3:c.776+53C>A	XP_011521273.1:n.776+53C>A
XM_011522973.3:c.776+53C>A	XP_011521275.1:n.776+53C>A
XM_017023094.2:c.776+53C>A	XP_016878583.1:n.776+53C>A
XM_017023095.2:c.776+53C>A	XP_016878584.1:n.776+53C>A
XM_017023096.2:c.776+53C>A	XP_016878585.1:n.776+53C>A
XM_017023097.2:c.776+53C>A	XP_016878586.1:n.776+53C>A
XM_017023100.2:c.776+53C>A	XP_016878589.1:n.776+53C>A
XR_933260.3:n.819+53C>A
NM_015272.5:c.776+53C>A MANE Select	NP_056087.2:n.776+53C>A
NM_001127897.4:c.776+53C>A	NP_001121369.1:n.776+53C>A
NM_001330538.2:c.776+53C>A	NP_001317467.1:n.776+53C>A
NM_001308334.3:c.776+53C>A	NP_001295263.1:n.776+53C>A