Canonical Allele Identifier: CA4625612
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs192310682
ExAC: 8:10480082 C / T
gnomAD v2: 8-10480082-C-T
gnomAD v3: 8-10622572-C-T
gnomAD v4: 8-10622572-C-T
MyVariant Identifiers: chr8:g.10480082C>T (hg19) chr8:g.10622572C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622572C>T , CM000670.2:g.10622572C>T GRCh38
NC_000008.10:g.10480082C>T , CM000670.1:g.10480082C>T GRCh37
NC_000008.9:g.10517492C>T NCBI36
NG_028035.1:g.37536G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+21G>A MANE Select ENSP00000371923.3:n.609+21G>A
ENST00000329335.3:n.859+21G>A
ENST00000382483.3:c.609+21G>A ENSP00000371923.3:n.609+21G>A
NM_178857.5:c.609+21G>A NP_849188.4:n.609+21G>A
NM_178857.6:c.609+21G>A MANE Select NP_849188.4:n.609+21G>A
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