Canonical Allele Identifier: CA612371544
Gene: RPGRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1235326684
gnomAD v2: 14-21780328-C-G
gnomAD v3: 14-21312169-C-G
gnomAD v4: 14-21312169-C-G
MyVariant Identifiers: chr14:g.21780328C>G (hg19) chr14:g.21312169C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312169C>G , CM000676.2:g.21312169C>G GRCh38
NC_000014.8:g.21780328C>G , CM000676.1:g.21780328C>G GRCh37
NC_000014.7:g.20850168C>G NCBI36
NG_008933.1:g.29193C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1077+199C>G MANE Select ENSP00000382895.2:n.1077+199C>G
ENST00000400017.6:c.1077+199C>G ENSP00000382895.2:n.1077+199C>G
ENST00000556336.5:c.996+199C>G ENSP00000450445.1:n.996+199C>G
ENST00000557771.5:c.996+199C>G ENSP00000451219.1:n.996+199C>G
NM_020366.3:c.1077+199C>G NP_065099.3:n.1077+199C>G
XM_011536983.1:c.1044+199C>G XP_011535285.1:n.1044+199C>G
NM_020366.4:c.1077+199C>G MANE Select NP_065099.3:n.1077+199C>G
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