Canonical Allele Identifier: CA1763389421
Gene: RP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622579C= , CM000670.2:g.10622579C= GRCh38
NC_000008.10:g.10480089C= , CM000670.1:g.10480089C= GRCh37
NC_000008.9:g.10517499C= NCBI36
NG_028035.1:g.37529G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+14G= MANE Select ENSP00000371923.3:n.609+14G=
ENST00000329335.3:n.859+14G=
ENST00000382483.3:c.609+14G= ENSP00000371923.3:n.609+14G=
NM_178857.5:c.609+14G= NP_849188.4:n.609+14G=
NM_178857.6:c.609+14G= MANE Select NP_849188.4:n.609+14G=