Canonical Allele Identifier: CA370299752

Gene: RP1L1

Linked Data

• MyVariant Identifiers: chr8:g.10480134A>T (hg19) ; chr8:g.10622624A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622624A>T , CM000670.2:g.10622624A>T	GRCh38
NC_000008.10:g.10480134A>T , CM000670.1:g.10480134A>T	GRCh37
NC_000008.9:g.10517544A>T	NCBI36
NG_028035.1:g.37484T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.578T>A MANE Select	ENSP00000371923.3:p.Val193Glu
ENST00000329335.3:n.828T>A
ENST00000382483.3:c.578T>A	ENSP00000371923.3:p.Val193Glu
NM_178857.5:c.578T>A	NP_849188.4:p.Val193Glu
NM_178857.6:c.578T>A MANE Select	NP_849188.4:p.Val193Glu