Canonical Allele Identifier: CA4623534
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs771167107
ExAC: 8:10465817 C / T
gnomAD v2: 8-10465817-C-T
gnomAD v3: 8-10608307-C-T
gnomAD v4: 8-10608307-C-T
MyVariant Identifiers: chr8:g.10465817C>T (hg19) chr8:g.10608307C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608307C>T , CM000670.2:g.10608307C>T GRCh38
NC_000008.10:g.10465817C>T , CM000670.1:g.10465817C>T GRCh37
NC_000008.9:g.10503227C>T NCBI36
NG_028035.1:g.51801G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.5791G>A MANE Select ENSP00000371923.3:p.Asp1931Asn
ENST00000382483.3:c.5791G>A ENSP00000371923.3:p.Asp1931Asn
NM_178857.5:c.5791G>A NP_849188.4:p.Asp1931Asn
NM_178857.6:c.5791G>A MANE Select NP_849188.4:p.Asp1931Asn
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