Canonical Allele Identifier: CA370295875
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1482467097
gnomAD v2: 8-10470356-C-T
gnomAD v4: 8-10612846-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612846C>T , CM000670.2:g.10612846C>T GRCh38
NC_000008.10:g.10470356C>T , CM000670.1:g.10470356C>T GRCh37
NC_000008.9:g.10507766C>T NCBI36
NG_028035.1:g.47262G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1252G>A MANE Select ENSP00000371923.3:p.Glu418Lys
ENST00000382483.3:c.1252G>A ENSP00000371923.3:p.Glu418Lys
NM_178857.5:c.1252G>A NP_849188.4:p.Glu418Lys
NM_178857.6:c.1252G>A MANE Select NP_849188.4:p.Glu418Lys