Canonical Allele Identifier: CA370295815
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10612816-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612816G>T , CM000670.2:g.10612816G>T GRCh38
NC_000008.10:g.10470326G>T , CM000670.1:g.10470326G>T GRCh37
NC_000008.9:g.10507736G>T NCBI36
NG_028035.1:g.47292C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1282C>A MANE Select ENSP00000371923.3:p.Leu428Met
ENST00000382483.3:c.1282C>A ENSP00000371923.3:p.Leu428Met
NM_178857.5:c.1282C>A NP_849188.4:p.Leu428Met
NM_178857.6:c.1282C>A MANE Select NP_849188.4:p.Leu428Met