Canonical Allele Identifier: CA459620104
Gene: RP1L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.10480196G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622686G>A , CM000670.2:g.10622686G>A GRCh38
NC_000008.10:g.10480196G>A , CM000670.1:g.10480196G>A GRCh37
NC_000008.9:g.10517606G>A NCBI36
NG_028035.1:g.37422C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.516C>T MANE Select ENSP00000371923.3:p.His172=
ENST00000329335.3:n.766C>T
ENST00000382483.3:c.516C>T ENSP00000371923.3:p.His172=
NM_178857.5:c.516C>T NP_849188.4:p.His172=
NM_178857.6:c.516C>T MANE Select NP_849188.4:p.His172=