Canonical Allele Identifier: CA1763389147
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622418A= , CM000670.2:g.10622418A= GRCh38
NC_000008.10:g.10479928A= , CM000670.1:g.10479928A= GRCh37
NC_000008.9:g.10517338A= NCBI36
NG_028035.1:g.37690T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+175T= MANE Select ENSP00000371923.3:n.609+175T=
ENST00000329335.3:n.859+175T=
ENST00000382483.3:c.609+175T= ENSP00000371923.3:n.609+175T=
NM_178857.5:c.609+175T= NP_849188.4:n.609+175T=
NM_178857.6:c.609+175T= MANE Select NP_849188.4:n.609+175T=