Canonical Allele Identifier: CA370295222
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10612506-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612506G>T , CM000670.2:g.10612506G>T GRCh38
NC_000008.10:g.10470016G>T , CM000670.1:g.10470016G>T GRCh37
NC_000008.9:g.10507426G>T NCBI36
NG_028035.1:g.47602C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1592C>A MANE Select ENSP00000371923.3:p.Ala531Asp
ENST00000382483.3:c.1592C>A ENSP00000371923.3:p.Ala531Asp
NM_178857.5:c.1592C>A NP_849188.4:p.Ala531Asp
NM_178857.6:c.1592C>A MANE Select NP_849188.4:p.Ala531Asp