Canonical Allele Identifier: CA4625247

Gene: RP1L1

Linked Data

• dbSNP Id: rs751837338
• ExAC: 8:10470354 C / T
• gnomAD v2: 8-10470354-C-T
• gnomAD v3: 8-10612844-C-T
• gnomAD v4: 8-10612844-C-T
• MyVariant Identifiers: chr8:g.10470354C>T (hg19) ; chr8:g.10612844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10612844C>T , CM000670.2:g.10612844C>T	GRCh38
NC_000008.10:g.10470354C>T , CM000670.1:g.10470354C>T	GRCh37
NC_000008.9:g.10507764C>T	NCBI36
NG_028035.1:g.47264G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.1254G>A MANE Select	ENSP00000371923.3:p.Glu418=
ENST00000382483.3:c.1254G>A	ENSP00000371923.3:p.Glu418=
NM_178857.5:c.1254G>A	NP_849188.4:p.Glu418=
NM_178857.6:c.1254G>A MANE Select	NP_849188.4:p.Glu418=