Canonical Allele Identifier: CA370299694

Gene: RP1L1

Linked Data

• MyVariant Identifiers: chr8:g.10480114T>A (hg19) ; chr8:g.10622604T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622604T>A , CM000670.2:g.10622604T>A	GRCh38
NC_000008.10:g.10480114T>A , CM000670.1:g.10480114T>A	GRCh37
NC_000008.9:g.10517524T>A	NCBI36
NG_028035.1:g.37504A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.598A>T MANE Select	ENSP00000371923.3:p.Ser200Cys
ENST00000329335.3:n.848A>T
ENST00000382483.3:c.598A>T	ENSP00000371923.3:p.Ser200Cys
NM_178857.5:c.598A>T	NP_849188.4:p.Ser200Cys
NM_178857.6:c.598A>T MANE Select	NP_849188.4:p.Ser200Cys