Canonical Allele Identifier: CA370295768
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10612792-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612792C>A , CM000670.2:g.10612792C>A GRCh38
NC_000008.10:g.10470302C>A , CM000670.1:g.10470302C>A GRCh37
NC_000008.9:g.10507712C>A NCBI36
NG_028035.1:g.47316G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1306G>T MANE Select ENSP00000371923.3:p.Gly436Cys
ENST00000382483.3:c.1306G>T ENSP00000371923.3:p.Gly436Cys
NM_178857.5:c.1306G>T NP_849188.4:p.Gly436Cys
NM_178857.6:c.1306G>T MANE Select NP_849188.4:p.Gly436Cys