Canonical Allele Identifier: CA459619939
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10612568-T-A
MyVariant Identifiers: chr8:g.10470078T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612568T>A , CM000670.2:g.10612568T>A GRCh38
NC_000008.10:g.10470078T>A , CM000670.1:g.10470078T>A GRCh37
NC_000008.9:g.10507488T>A NCBI36
NG_028035.1:g.47540A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.1530A>T MANE Select ENSP00000371923.3:p.Ala510=
ENST00000382483.3:c.1530A>T ENSP00000371923.3:p.Ala510=
NM_178857.5:c.1530A>T NP_849188.4:p.Ala510=
NM_178857.6:c.1530A>T MANE Select NP_849188.4:p.Ala510=
Search 100 bp 5'
Search 100 bp 3'