Canonical Allele Identifier: CA612371664
Gene: RPGRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1490029322
gnomAD v2: 14-21780713-T-A
gnomAD v4: 14-21312554-T-A
MyVariant Identifiers: chr14:g.21780713T>A (hg19) chr14:g.21312554T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312554T>A , CM000676.2:g.21312554T>A GRCh38
NC_000014.8:g.21780713T>A , CM000676.1:g.21780713T>A GRCh37
NC_000014.7:g.20850553T>A NCBI36
NG_008933.1:g.29578T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1151+48T>A MANE Select ENSP00000382895.2:n.1151+48T>A
ENST00000400017.6:c.1151+48T>A ENSP00000382895.2:n.1151+48T>A
ENST00000556336.5:c.1070+48T>A ENSP00000450445.1:n.1070+48T>A
ENST00000557771.5:c.1070+48T>A ENSP00000451219.1:n.1070+48T>A
NM_020366.3:c.1151+48T>A NP_065099.3:n.1151+48T>A
XM_011536983.1:c.1118+48T>A XP_011535285.1:n.1118+48T>A
NM_020366.4:c.1151+48T>A MANE Select NP_065099.3:n.1151+48T>A
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