Canonical Allele Identifier: CA388862925
Gene: RPGRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.21780656T>C (hg19) chr14:g.21312497T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21312497T>C , CM000676.2:g.21312497T>C GRCh38
NC_000014.8:g.21780656T>C , CM000676.1:g.21780656T>C GRCh37
NC_000014.7:g.20850496T>C NCBI36
NG_008933.1:g.29521T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.1142T>C MANE Select ENSP00000382895.2:p.Leu381Pro
ENST00000400017.6:c.1142T>C ENSP00000382895.2:p.Leu381Pro
ENST00000556336.5:c.1061T>C ENSP00000450445.1:p.Leu354Pro
ENST00000557771.5:c.1061T>C ENSP00000451219.1:p.Leu354Pro
NM_020366.3:c.1142T>C NP_065099.3:p.Leu381Pro
XM_011536983.1:c.1109T>C XP_011535285.1:p.Leu370Pro
NM_020366.4:c.1142T>C MANE Select NP_065099.3:p.Leu381Pro
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