Canonical Allele Identifier: CA370299737
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622618T>G , CM000670.2:g.10622618T>G GRCh38
NC_000008.10:g.10480128T>G , CM000670.1:g.10480128T>G GRCh37
NC_000008.9:g.10517538T>G NCBI36
NG_028035.1:g.37490A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.584A>C MANE Select ENSP00000371923.3:p.Gln195Pro
ENST00000329335.3:n.834A>C
ENST00000382483.3:c.584A>C ENSP00000371923.3:p.Gln195Pro
NM_178857.5:c.584A>C NP_849188.4:p.Gln195Pro
NM_178857.6:c.584A>C MANE Select NP_849188.4:p.Gln195Pro