Canonical Allele Identifier: CA1763389186
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622448G= , CM000670.2:g.10622448G= GRCh38
NC_000008.10:g.10479958G= , CM000670.1:g.10479958G= GRCh37
NC_000008.9:g.10517368G= NCBI36
NG_028035.1:g.37660C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+145C= MANE Select ENSP00000371923.3:n.609+145C=
ENST00000329335.3:n.859+145C=
ENST00000382483.3:c.609+145C= ENSP00000371923.3:n.609+145C=
NM_178857.5:c.609+145C= NP_849188.4:n.609+145C=
NM_178857.6:c.609+145C= MANE Select NP_849188.4:n.609+145C=