Canonical Allele Identifier: CA1763379126
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612858C= , CM000670.2:g.10612858C= GRCh38
NC_000008.10:g.10470368C= , CM000670.1:g.10470368C= GRCh37
NC_000008.9:g.10507778C= NCBI36
NG_028035.1:g.47250G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1240G= MANE Select ENSP00000371923.3:p.Ala414=
ENST00000382483.3:c.1240G= ENSP00000371923.3:p.Ala414=
NM_178857.5:c.1240G= NP_849188.4:p.Ala414=
NM_178857.6:c.1240G= MANE Select NP_849188.4:p.Ala414=