Canonical Allele Identifier: CA459620110
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10480202G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622692G>C , CM000670.2:g.10622692G>C GRCh38
NC_000008.10:g.10480202G>C , CM000670.1:g.10480202G>C GRCh37
NC_000008.9:g.10517612G>C NCBI36
NG_028035.1:g.37416C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.510C>G MANE Select ENSP00000371923.3:p.Leu170=
ENST00000329335.3:n.760C>G
ENST00000382483.3:c.510C>G ENSP00000371923.3:p.Leu170=
NM_178857.5:c.510C>G NP_849188.4:p.Leu170=
NM_178857.6:c.510C>G MANE Select NP_849188.4:p.Leu170=