Canonical Allele Identifier: CA370295888
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10470362G>C (hg19) chr8:g.10612852G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612852G>C , CM000670.2:g.10612852G>C GRCh38
NC_000008.10:g.10470362G>C , CM000670.1:g.10470362G>C GRCh37
NC_000008.9:g.10507772G>C NCBI36
NG_028035.1:g.47256C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1246C>G MANE Select ENSP00000371923.3:p.Gln416Glu
ENST00000382483.3:c.1246C>G ENSP00000371923.3:p.Gln416Glu
NM_178857.5:c.1246C>G NP_849188.4:p.Gln416Glu
NM_178857.6:c.1246C>G MANE Select NP_849188.4:p.Gln416Glu
Search 100 bp 5'
Search 100 bp 3'