Canonical Allele Identifier: CA370295901
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1797893482
gnomAD v3: 8-10612859-A-C
gnomAD v4: 8-10612859-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612859A>C , CM000670.2:g.10612859A>C GRCh38
NC_000008.10:g.10470369A>C , CM000670.1:g.10470369A>C GRCh37
NC_000008.9:g.10507779A>C NCBI36
NG_028035.1:g.47249T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1239T>G MANE Select ENSP00000371923.3:p.His413Gln
ENST00000382483.3:c.1239T>G ENSP00000371923.3:p.His413Gln
NM_178857.5:c.1239T>G NP_849188.4:p.His413Gln
NM_178857.6:c.1239T>G MANE Select NP_849188.4:p.His413Gln