Canonical Allele Identifier: CA4625782

Gene: RP1L1

Linked Data

• ClinVar Variation Id: 361420
• ClinVar RCV Id: RCV000261780 ; RCV000585376 ; RCV001700017 ; RCV003888890
• dbSNP Id: rs201810499
• ExAC: 8:10480439 G / A
• gnomAD v2: 8-10480439-G-A
• gnomAD v3: 8-10622929-G-A
• gnomAD v4: 8-10622929-G-A
• MyVariant Identifiers: chr8:g.10480439G>A (hg19) ; chr8:g.10622929G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622929G>A , CM000670.2:g.10622929G>A	GRCh38
NC_000008.10:g.10480439G>A , CM000670.1:g.10480439G>A	GRCh37
NC_000008.9:g.10517849G>A	NCBI36
NG_028035.1:g.37179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.273C>T MANE Select	ENSP00000371923.3:p.Ser91=
ENST00000329335.3:n.523C>T
ENST00000382483.3:c.273C>T	ENSP00000371923.3:p.Ser91=
NM_178857.5:c.273C>T	NP_849188.4:p.Ser91=
NM_178857.6:c.273C>T MANE Select	NP_849188.4:p.Ser91=