Canonical Allele Identifier: CA4625696
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs377360026
ExAC: 8:10480264 T / G
gnomAD v2: 8-10480264-T-G
gnomAD v3: 8-10622754-T-G
gnomAD v4: 8-10622754-T-G
COSMIC: COSM4809098
MyVariant Identifiers: chr8:g.10480264T>G (hg19) chr8:g.10622754T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622754T>G , CM000670.2:g.10622754T>G GRCh38
NC_000008.10:g.10480264T>G , CM000670.1:g.10480264T>G GRCh37
NC_000008.9:g.10517674T>G NCBI36
NG_028035.1:g.37354A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.448A>C MANE Select ENSP00000371923.3:p.Thr150Pro
ENST00000329335.3:n.698A>C
ENST00000382483.3:c.448A>C ENSP00000371923.3:p.Thr150Pro
NM_178857.5:c.448A>C NP_849188.4:p.Thr150Pro
NM_178857.6:c.448A>C MANE Select NP_849188.4:p.Thr150Pro
Search 100 bp 5'
Search 100 bp 3'