Canonical Allele Identifier: CA370299689

Gene: RP1L1

Linked Data

• MyVariant Identifiers: chr8:g.10480113C>T (hg19) ; chr8:g.10622603C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622603C>T , CM000670.2:g.10622603C>T	GRCh38
NC_000008.10:g.10480113C>T , CM000670.1:g.10480113C>T	GRCh37
NC_000008.9:g.10517523C>T	NCBI36
NG_028035.1:g.37505G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.599G>A MANE Select	ENSP00000371923.3:p.Ser200Asn
ENST00000329335.3:n.849G>A
ENST00000382483.3:c.599G>A	ENSP00000371923.3:p.Ser200Asn
NM_178857.5:c.599G>A	NP_849188.4:p.Ser200Asn
NM_178857.6:c.599G>A MANE Select	NP_849188.4:p.Ser200Asn