Canonical Allele Identifier: CA388862857
Gene: RPGRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2139176304
gnomAD v3: 14-21312479-A-G
gnomAD v4: 14-21312479-A-G
MyVariant Identifiers: chr14:g.21780638A>G (hg19) chr14:g.21312479A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312479A>G , CM000676.2:g.21312479A>G GRCh38
NC_000014.8:g.21780638A>G , CM000676.1:g.21780638A>G GRCh37
NC_000014.7:g.20850478A>G NCBI36
NG_008933.1:g.29503A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1124A>G MANE Select ENSP00000382895.2:p.Asn375Ser
ENST00000400017.6:c.1124A>G ENSP00000382895.2:p.Asn375Ser
ENST00000556336.5:c.1043A>G ENSP00000450445.1:p.Asn348Ser
ENST00000557771.5:c.1043A>G ENSP00000451219.1:p.Asn348Ser
NM_020366.3:c.1124A>G NP_065099.3:p.Asn375Ser
XM_011536983.1:c.1091A>G XP_011535285.1:p.Asn364Ser
NM_020366.4:c.1124A>G MANE Select NP_065099.3:p.Asn375Ser
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