Canonical Allele Identifier: CA4625671
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs529159834
ExAC: 8:10480218 T / G
gnomAD v2: 8-10480218-T-G
gnomAD v3: 8-10622708-T-G
gnomAD v4: 8-10622708-T-G
MyVariant Identifiers: chr8:g.10480218T>G (hg19) chr8:g.10622708T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622708T>G , CM000670.2:g.10622708T>G GRCh38
NC_000008.10:g.10480218T>G , CM000670.1:g.10480218T>G GRCh37
NC_000008.9:g.10517628T>G NCBI36
NG_028035.1:g.37400A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.494A>C MANE Select ENSP00000371923.3:p.Gln165Pro
ENST00000329335.3:n.744A>C
ENST00000382483.3:c.494A>C ENSP00000371923.3:p.Gln165Pro
NM_178857.5:c.494A>C NP_849188.4:p.Gln165Pro
NM_178857.6:c.494A>C MANE Select NP_849188.4:p.Gln165Pro
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