Canonical Allele Identifier: CA370300004
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622711A>C , CM000670.2:g.10622711A>C GRCh38
NC_000008.10:g.10480221A>C , CM000670.1:g.10480221A>C GRCh37
NC_000008.9:g.10517631A>C NCBI36
NG_028035.1:g.37397T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.491T>G MANE Select ENSP00000371923.3:p.Leu164Arg
ENST00000329335.3:n.741T>G
ENST00000382483.3:c.491T>G ENSP00000371923.3:p.Leu164Arg
NM_178857.5:c.491T>G NP_849188.4:p.Leu164Arg
NM_178857.6:c.491T>G MANE Select NP_849188.4:p.Leu164Arg