Canonical Allele Identifier: CA4625643
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs773264034
ExAC: 8:10480153 C / A
gnomAD v2: 8-10480153-C-A
gnomAD v4: 8-10622643-C-A
MyVariant Identifiers: chr8:g.10480153C>A (hg19) chr8:g.10622643C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622643C>A , CM000670.2:g.10622643C>A GRCh38
NC_000008.10:g.10480153C>A , CM000670.1:g.10480153C>A GRCh37
NC_000008.9:g.10517563C>A NCBI36
NG_028035.1:g.37465G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.559G>T MANE Select ENSP00000371923.3:p.Asp187Tyr
ENST00000329335.3:n.809G>T
ENST00000382483.3:c.559G>T ENSP00000371923.3:p.Asp187Tyr
NM_178857.5:c.559G>T NP_849188.4:p.Asp187Tyr
NM_178857.6:c.559G>T MANE Select NP_849188.4:p.Asp187Tyr
Search 100 bp 5'
Search 100 bp 3'