Canonical Allele Identifier: CA459620190
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1798083811
MyVariant Identifiers: chr8:g.10480265T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622755T>C , CM000670.2:g.10622755T>C GRCh38
NC_000008.10:g.10480265T>C , CM000670.1:g.10480265T>C GRCh37
NC_000008.9:g.10517675T>C NCBI36
NG_028035.1:g.37353A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.447A>G MANE Select ENSP00000371923.3:p.Lys149=
ENST00000329335.3:n.697A>G
ENST00000382483.3:c.447A>G ENSP00000371923.3:p.Lys149=
NM_178857.5:c.447A>G NP_849188.4:p.Lys149=
NM_178857.6:c.447A>G MANE Select NP_849188.4:p.Lys149=
Search 100 bp 5'
Search 100 bp 3'