Canonical Allele Identifier: CA612377162

Gene: RPGRIP1

Linked Data

• dbSNP Id: rs1283916542
• gnomAD v2: 14-21789961-C-G
• gnomAD v3: 14-21321802-C-G
• gnomAD v4: 14-21321802-C-G
• MyVariant Identifiers: chr14:g.21789961C>G (hg19) ; chr14:g.21321802C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21321802C>G , CM000676.2:g.21321802C>G	GRCh38
NC_000014.8:g.21789961C>G , CM000676.1:g.21789961C>G	GRCh37
NC_000014.7:g.20859801C>G	NCBI36
NG_008933.1:g.38826C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000400017.7:c.1612-52C>G MANE Select	ENSP00000382895.2:n.1612-52C>G
ENST00000382933.8:c.538-52C>G	ENSP00000372391.4:n.538-52C>G
ENST00000400017.6:c.1612-52C>G	ENSP00000382895.2:n.1612-52C>G
ENST00000553500.5:n.70-52C>G
ENST00000554303.1:c.31-52C>G	ENSP00000450426.1:n.31-52C>G
ENST00000555322.5:c.149-55C>G
ENST00000555587.5:c.40-55C>G	ENSP00000451262.1:n.40-55C>G
ENST00000556336.5:c.1531-52C>G	ENSP00000450445.1:n.1531-52C>G
ENST00000557771.5:c.1531-52C>G	ENSP00000451219.1:n.1531-52C>G
NM_020366.3:c.1612-52C>G	NP_065099.3:n.1612-52C>G
XM_005267879.2:c.538-52C>G	XP_005267936.1:n.538-52C>G
XM_005267880.2:c.538-52C>G	XP_005267937.1:n.538-52C>G
XM_005267881.2:c.-15-52C>G	XP_005267938.1:n.-15-52C>G
XM_011536978.1:c.538-52C>G	XP_011535280.1:n.538-52C>G
XM_011536979.1:c.538-52C>G	XP_011535281.1:n.538-52C>G
XM_011536980.1:c.538-52C>G	XP_011535282.1:n.538-52C>G
XM_011536981.1:c.538-52C>G	XP_011535283.1:n.538-52C>G
XM_011536982.1:c.538-52C>G	XP_011535284.1:n.538-52C>G
XM_011536983.1:c.1579-52C>G	XP_011535285.1:n.1579-52C>G
XM_005267881.3:c.-15-52C>G	XP_005267938.1:n.-15-52C>G
XM_017021473.1:c.538-52C>G	XP_016876962.1:n.538-52C>G
XM_024449663.1:c.538-52C>G	XP_024305431.1:n.538-52C>G
XM_024449664.1:c.538-52C>G	XP_024305432.1:n.538-52C>G
XM_024449665.1:c.538-52C>G	XP_024305433.1:n.538-52C>G
XM_024449666.1:c.538-52C>G	XP_024305434.1:n.538-52C>G
NM_001377523.1:c.538-52C>G	NP_001364452.1:n.538-52C>G
NM_001377948.1:c.538-52C>G	NP_001364877.1:n.538-52C>G
NM_001377949.1:c.538-52C>G	NP_001364878.1:n.538-52C>G
NM_001377950.1:c.538-52C>G	NP_001364879.1:n.538-52C>G
NM_001377951.1:c.40-52C>G	NP_001364880.1:n.40-52C>G
NM_020366.4:c.1612-52C>G MANE Select	NP_065099.3:n.1612-52C>G