Canonical Allele Identifier: CA459619077
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10468632C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10611122C>G , CM000670.2:g.10611122C>G GRCh38
NC_000008.10:g.10468632C>G , CM000670.1:g.10468632C>G GRCh37
NC_000008.9:g.10506042C>G NCBI36
NG_028035.1:g.48986G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.2976G>C MANE Select ENSP00000371923.3:p.Val992=
ENST00000382483.3:c.2976G>C ENSP00000371923.3:p.Val992=
NM_178857.5:c.2976G>C NP_849188.4:p.Val992=
NM_178857.6:c.2976G>C MANE Select NP_849188.4:p.Val992=