Canonical Allele Identifier: CA370300477
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs6601495
MyVariant Identifiers: chr8:g.10480377G>T (hg19) chr8:g.10622867G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622867G>T , CM000670.2:g.10622867G>T GRCh38
NC_000008.10:g.10480377G>T , CM000670.1:g.10480377G>T GRCh37
NC_000008.9:g.10517787G>T NCBI36
NG_028035.1:g.37241C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.335C>A MANE Select ENSP00000371923.3:p.Thr112Asn
ENST00000329335.3:n.585C>A
ENST00000382483.3:c.335C>A ENSP00000371923.3:p.Thr112Asn
NM_178857.5:c.335C>A NP_849188.4:p.Thr112Asn
NM_178857.6:c.335C>A MANE Select NP_849188.4:p.Thr112Asn
Search 100 bp 5'
Search 100 bp 3'