Canonical Allele Identifier: CA1763379114
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612850C= , CM000670.2:g.10612850C= GRCh38
NC_000008.10:g.10470360C= , CM000670.1:g.10470360C= GRCh37
NC_000008.9:g.10507770C= NCBI36
NG_028035.1:g.47258G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1248G= MANE Select ENSP00000371923.3:p.Gln416=
ENST00000382483.3:c.1248G= ENSP00000371923.3:p.Gln416=
NM_178857.5:c.1248G= NP_849188.4:p.Gln416=
NM_178857.6:c.1248G= MANE Select NP_849188.4:p.Gln416=