Canonical Allele Identifier: CA2624069954
Gene: RPGRIP1 HGNC NCBI

Linked Data

gnomAD v4: 14-21312102-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312102T>G , CM000676.2:g.21312102T>G GRCh38
NC_000014.8:g.21780261T>G , CM000676.1:g.21780261T>G GRCh37
NC_000014.7:g.20850101T>G NCBI36
NG_008933.1:g.29126T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1077+132T>G MANE Select ENSP00000382895.2:n.1077+132T>G
ENST00000400017.6:c.1077+132T>G ENSP00000382895.2:n.1077+132T>G
ENST00000556336.5:c.996+132T>G ENSP00000450445.1:n.996+132T>G
ENST00000557771.5:c.996+132T>G ENSP00000451219.1:n.996+132T>G
NM_020366.3:c.1077+132T>G NP_065099.3:n.1077+132T>G
XM_011536983.1:c.1044+132T>G XP_011535285.1:n.1044+132T>G
NM_020366.4:c.1077+132T>G MANE Select NP_065099.3:n.1077+132T>G
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