Canonical Allele Identifier: CA2686114257
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10622451-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622451T>C , CM000670.2:g.10622451T>C GRCh38
NC_000008.10:g.10479961T>C , CM000670.1:g.10479961T>C GRCh37
NC_000008.9:g.10517371T>C NCBI36
NG_028035.1:g.37657A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+142A>G MANE Select ENSP00000371923.3:n.609+142A>G
ENST00000329335.3:n.859+142A>G
ENST00000382483.3:c.609+142A>G ENSP00000371923.3:n.609+142A>G
NM_178857.5:c.609+142A>G NP_849188.4:n.609+142A>G
NM_178857.6:c.609+142A>G MANE Select NP_849188.4:n.609+142A>G
Search 100 bp 5'
Search 100 bp 3'