Canonical Allele Identifier: CA370280264
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10465819T>C (hg19) chr8:g.10608309T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608309T>C , CM000670.2:g.10608309T>C GRCh38
NC_000008.10:g.10465819T>C , CM000670.1:g.10465819T>C GRCh37
NC_000008.9:g.10503229T>C NCBI36
NG_028035.1:g.51799A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.5789A>G MANE Select ENSP00000371923.3:p.Glu1930Gly
ENST00000382483.3:c.5789A>G ENSP00000371923.3:p.Glu1930Gly
NM_178857.5:c.5789A>G NP_849188.4:p.Glu1930Gly
NM_178857.6:c.5789A>G MANE Select NP_849188.4:p.Glu1930Gly
Search 100 bp 5'
Search 100 bp 3'