Canonical Allele Identifier: CA1763379118
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612852G= , CM000670.2:g.10612852G= GRCh38
NC_000008.10:g.10470362G= , CM000670.1:g.10470362G= GRCh37
NC_000008.9:g.10507772G= NCBI36
NG_028035.1:g.47256C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1246C= MANE Select ENSP00000371923.3:p.Gln416=
ENST00000382483.3:c.1246C= ENSP00000371923.3:p.Gln416=
NM_178857.5:c.1246C= NP_849188.4:p.Gln416=
NM_178857.6:c.1246C= MANE Select NP_849188.4:p.Gln416=