Canonical Allele Identifier: CA370299933
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622686G>T , CM000670.2:g.10622686G>T GRCh38
NC_000008.10:g.10480196G>T , CM000670.1:g.10480196G>T GRCh37
NC_000008.9:g.10517606G>T NCBI36
NG_028035.1:g.37422C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.516C>A MANE Select ENSP00000371923.3:p.His172Gln
ENST00000329335.3:n.766C>A
ENST00000382483.3:c.516C>A ENSP00000371923.3:p.His172Gln
NM_178857.5:c.516C>A NP_849188.4:p.His172Gln
NM_178857.6:c.516C>A MANE Select NP_849188.4:p.His172Gln