Canonical Allele Identifier: CA370300077
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1219283852
gnomAD v3: 8-10622735-A-G
gnomAD v4: 8-10622735-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622735A>G , CM000670.2:g.10622735A>G GRCh38
NC_000008.10:g.10480245A>G , CM000670.1:g.10480245A>G GRCh37
NC_000008.9:g.10517655A>G NCBI36
NG_028035.1:g.37373T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.467T>C MANE Select ENSP00000371923.3:p.Leu156Pro
ENST00000329335.3:n.717T>C
ENST00000382483.3:c.467T>C ENSP00000371923.3:p.Leu156Pro
NM_178857.5:c.467T>C NP_849188.4:p.Leu156Pro
NM_178857.6:c.467T>C MANE Select NP_849188.4:p.Leu156Pro