Canonical Allele Identifier: CA2579091953

Gene: RP1L1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622493A>C , CM000670.2:g.10622493A>C	GRCh38
NC_000008.10:g.10480003A>C , CM000670.1:g.10480003A>C	GRCh37
NC_000008.9:g.10517413A>C	NCBI36
NG_028035.1:g.37615T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.609+100T>G MANE Select	ENSP00000371923.3:n.609+100T>G
ENST00000329335.3:n.859+100T>G
ENST00000382483.3:c.609+100T>G	ENSP00000371923.3:n.609+100T>G
NM_178857.5:c.609+100T>G	NP_849188.4:n.609+100T>G
NM_178857.6:c.609+100T>G MANE Select	NP_849188.4:n.609+100T>G