Canonical Allele Identifier: CA459619090
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10468638G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10611128G>T , CM000670.2:g.10611128G>T GRCh38
NC_000008.10:g.10468638G>T , CM000670.1:g.10468638G>T GRCh37
NC_000008.9:g.10506048G>T NCBI36
NG_028035.1:g.48980C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.2970C>A MANE Select ENSP00000371923.3:p.Pro990=
ENST00000382483.3:c.2970C>A ENSP00000371923.3:p.Pro990=
NM_178857.5:c.2970C>A NP_849188.4:p.Pro990=
NM_178857.6:c.2970C>A MANE Select NP_849188.4:p.Pro990=