Canonical Allele Identifier: CA370299950
Gene: RP1L1 HGNC NCBI

Linked Data

COSMIC: COSM5024247
MyVariant Identifiers: chr8:g.10480201T>A (hg19) chr8:g.10622691T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622691T>A , CM000670.2:g.10622691T>A GRCh38
NC_000008.10:g.10480201T>A , CM000670.1:g.10480201T>A GRCh37
NC_000008.9:g.10517611T>A NCBI36
NG_028035.1:g.37417A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.511A>T MANE Select ENSP00000371923.3:p.Ser171Cys
ENST00000329335.3:n.761A>T
ENST00000382483.3:c.511A>T ENSP00000371923.3:p.Ser171Cys
NM_178857.5:c.511A>T NP_849188.4:p.Ser171Cys
NM_178857.6:c.511A>T MANE Select NP_849188.4:p.Ser171Cys
Search 100 bp 5'
Search 100 bp 3'