Canonical Allele Identifier: CA171947621
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs988775533
gnomAD v4: 8-10612495-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612495A>G , CM000670.2:g.10612495A>G GRCh38
NC_000008.10:g.10470005A>G , CM000670.1:g.10470005A>G GRCh37
NC_000008.9:g.10507415A>G NCBI36
NG_028035.1:g.47613T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1603T>C MANE Select ENSP00000371923.3:p.Ser535Pro
ENST00000382483.3:c.1603T>C ENSP00000371923.3:p.Ser535Pro
NM_178857.5:c.1603T>C NP_849188.4:p.Ser535Pro
NM_178857.6:c.1603T>C MANE Select NP_849188.4:p.Ser535Pro