Canonical Allele Identifier: CA370300050

Gene: RP1L1

Linked Data

• MyVariant Identifiers: chr8:g.10480236T>A (hg19) ; chr8:g.10622726T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622726T>A , CM000670.2:g.10622726T>A	GRCh38
NC_000008.10:g.10480236T>A , CM000670.1:g.10480236T>A	GRCh37
NC_000008.9:g.10517646T>A	NCBI36
NG_028035.1:g.37382A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.476A>T MANE Select	ENSP00000371923.3:p.Asn159Ile
ENST00000329335.3:n.726A>T
ENST00000382483.3:c.476A>T	ENSP00000371923.3:p.Asn159Ile
NM_178857.5:c.476A>T	NP_849188.4:p.Asn159Ile
NM_178857.6:c.476A>T MANE Select	NP_849188.4:p.Asn159Ile