Canonical Allele Identifier: CA257501369
Gene: RPGRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs978781775
gnomAD v3: 14-21312145-T-G
gnomAD v4: 14-21312145-T-G
MyVariant Identifiers: chr14:g.21780304T>G (hg19) chr14:g.21312145T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312145T>G , CM000676.2:g.21312145T>G GRCh38
NC_000014.8:g.21780304T>G , CM000676.1:g.21780304T>G GRCh37
NC_000014.7:g.20850144T>G NCBI36
NG_008933.1:g.29169T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1077+175T>G MANE Select ENSP00000382895.2:n.1077+175T>G
ENST00000400017.6:c.1077+175T>G ENSP00000382895.2:n.1077+175T>G
ENST00000556336.5:c.996+175T>G ENSP00000450445.1:n.996+175T>G
ENST00000557771.5:c.996+175T>G ENSP00000451219.1:n.996+175T>G
NM_020366.3:c.1077+175T>G NP_065099.3:n.1077+175T>G
XM_011536983.1:c.1044+175T>G XP_011535285.1:n.1044+175T>G
NM_020366.4:c.1077+175T>G MANE Select NP_065099.3:n.1077+175T>G
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