Canonical Allele Identifier: CA459620106
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1240766963
gnomAD v4: 8-10622689-A-G
MyVariant Identifiers: chr8:g.10480199A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622689A>G , CM000670.2:g.10622689A>G GRCh38
NC_000008.10:g.10480199A>G , CM000670.1:g.10480199A>G GRCh37
NC_000008.9:g.10517609A>G NCBI36
NG_028035.1:g.37419T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.513T>C MANE Select ENSP00000371923.3:p.Ser171=
ENST00000329335.3:n.763T>C
ENST00000382483.3:c.513T>C ENSP00000371923.3:p.Ser171=
NM_178857.5:c.513T>C NP_849188.4:p.Ser171=
NM_178857.6:c.513T>C MANE Select NP_849188.4:p.Ser171=
Search 100 bp 5'
Search 100 bp 3'