Canonical Allele Identifier: CA1763418813
Gene: C8orf74 HGNC NCBI
RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10677867G>T , CM000670.2:g.10677867G>T GRCh38
NC_000008.10:g.10535377G>T , CM000670.1:g.10535377G>T GRCh37
NC_000008.9:g.10572787G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000304519.10:c.241+3029G>T (C8orf74) MANE Select ENSP00000307129.5:n.241+3029G>T
ENST00000304519.9:c.241+3029G>T (C8orf74) ENSP00000307129.5:n.241+3029G>T
ENST00000329335.3:n.231+34090C>A (RP1L1)
ENST00000517414.5:n.254+3029G>T (C8orf74)
ENST00000521818.1:c.236+3029G>T (C8orf74)
ENST00000523289.5:c.241+3029G>T (C8orf74) ENSP00000430613.1:n.241+3029G>T
ENST00000523723.5:c.241+3029G>T (C8orf74) ENSP00000432993.1:n.241+3029G>T
ENST00000524025.5:n.425-2028G>T (C8orf74)
NM_001040032.1:c.241+3029G>T (C8orf74) NP_001035121.1:n.241+3029G>T
XM_011543816.1:c.262+3029G>T (C8orf74) XP_011542118.1:n.262+3029G>T
XM_024447091.1:c.346+3029G>T (C8orf74) XP_024302859.1:n.346+3029G>T
NM_001040032.2:c.241+3029G>T (C8orf74) MANE Select NP_001035121.2:n.241+3029G>T