Canonical Allele Identifier: CA2779033525

Gene: RP1L1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622497C>A , CM000670.2:g.10622497C>A	GRCh38
NC_000008.10:g.10480007C>A , CM000670.1:g.10480007C>A	GRCh37
NC_000008.9:g.10517417C>A	NCBI36
NG_028035.1:g.37611G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.609+96G>T MANE Select	ENSP00000371923.3:n.609+96G>T
ENST00000329335.3:n.859+96G>T
ENST00000382483.3:c.609+96G>T	ENSP00000371923.3:n.609+96G>T
NM_178857.5:c.609+96G>T	NP_849188.4:n.609+96G>T
NM_178857.6:c.609+96G>T MANE Select	NP_849188.4:n.609+96G>T