Canonical Allele Identifier: CA370280048
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v3: 8-10608207-T-G
gnomAD v4: 8-10608207-T-G
MyVariant Identifiers: chr8:g.10465717T>G (hg19) chr8:g.10608207T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608207T>G , CM000670.2:g.10608207T>G GRCh38
NC_000008.10:g.10465717T>G , CM000670.1:g.10465717T>G GRCh37
NC_000008.9:g.10503127T>G NCBI36
NG_028035.1:g.51901A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.5891A>C MANE Select ENSP00000371923.3:p.Gln1964Pro
ENST00000382483.3:c.5891A>C ENSP00000371923.3:p.Gln1964Pro
NM_178857.5:c.5891A>C NP_849188.4:p.Gln1964Pro
NM_178857.6:c.5891A>C MANE Select NP_849188.4:p.Gln1964Pro
Search 100 bp 5'
Search 100 bp 3'