Canonical Allele Identifier: CA388862851
Gene: RPGRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.21780637A>C (hg19) chr14:g.21312478A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312478A>C , CM000676.2:g.21312478A>C GRCh38
NC_000014.8:g.21780637A>C , CM000676.1:g.21780637A>C GRCh37
NC_000014.7:g.20850477A>C NCBI36
NG_008933.1:g.29502A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1123A>C MANE Select ENSP00000382895.2:p.Asn375His
ENST00000400017.6:c.1123A>C ENSP00000382895.2:p.Asn375His
ENST00000556336.5:c.1042A>C ENSP00000450445.1:p.Asn348His
ENST00000557771.5:c.1042A>C ENSP00000451219.1:p.Asn348His
NM_020366.3:c.1123A>C NP_065099.3:p.Asn375His
XM_011536983.1:c.1090A>C XP_011535285.1:p.Asn364His
NM_020366.4:c.1123A>C MANE Select NP_065099.3:p.Asn375His
Search 100 bp 5'
Search 100 bp 3'