Canonical Allele Identifier: CA370300753
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622966C>G , CM000670.2:g.10622966C>G GRCh38
NC_000008.10:g.10480476C>G , CM000670.1:g.10480476C>G GRCh37
NC_000008.9:g.10517886C>G NCBI36
NG_028035.1:g.37142G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.236G>C MANE Select ENSP00000371923.3:p.Arg79Pro
ENST00000329335.3:n.486G>C
ENST00000382483.3:c.236G>C ENSP00000371923.3:p.Arg79Pro
NM_178857.5:c.236G>C NP_849188.4:p.Arg79Pro
NM_178857.6:c.236G>C MANE Select NP_849188.4:p.Arg79Pro