Canonical Allele Identifier: CA2624070126
Gene: RPGRIP1 HGNC NCBI

Linked Data

gnomAD v4: 14-21312626-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312626G>C , CM000676.2:g.21312626G>C GRCh38
NC_000014.8:g.21780785G>C , CM000676.1:g.21780785G>C GRCh37
NC_000014.7:g.20850625G>C NCBI36
NG_008933.1:g.29650G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1151+120G>C MANE Select ENSP00000382895.2:n.1151+120G>C
ENST00000400017.6:c.1151+120G>C ENSP00000382895.2:n.1151+120G>C
ENST00000556336.5:c.1070+120G>C ENSP00000450445.1:n.1070+120G>C
ENST00000557771.5:c.1070+120G>C ENSP00000451219.1:n.1070+120G>C
NM_020366.3:c.1151+120G>C NP_065099.3:n.1151+120G>C
XM_011536983.1:c.1118+120G>C XP_011535285.1:n.1118+120G>C
NM_020366.4:c.1151+120G>C MANE Select NP_065099.3:n.1151+120G>C
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