Canonical Allele Identifier: CA4625179
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs752352945
ExAC: 8:10470185 T / A
gnomAD v2: 8-10470185-T-A
gnomAD v3: 8-10612675-T-A
gnomAD v4: 8-10612675-T-A
MyVariant Identifiers: chr8:g.10470185T>A (hg19) chr8:g.10612675T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612675T>A , CM000670.2:g.10612675T>A GRCh38
NC_000008.10:g.10470185T>A , CM000670.1:g.10470185T>A GRCh37
NC_000008.9:g.10507595T>A NCBI36
NG_028035.1:g.47433A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.1423A>T MANE Select ENSP00000371923.3:p.Thr475Ser
ENST00000382483.3:c.1423A>T ENSP00000371923.3:p.Thr475Ser
NM_178857.5:c.1423A>T NP_849188.4:p.Thr475Ser
NM_178857.6:c.1423A>T MANE Select NP_849188.4:p.Thr475Ser
Search 100 bp 5'
Search 100 bp 3'