Canonical Allele Identifier: CA4625609

Gene: RP1L1

Linked Data

• dbSNP Id: rs750239731
• ExAC: 8:10480069 C / G
• gnomAD v2: 8-10480069-C-G
• gnomAD v3: 8-10622559-C-G
• gnomAD v4: 8-10622559-C-G
• MyVariant Identifiers: chr8:g.10480069C>G (hg19) ; chr8:g.10622559C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622559C>G , CM000670.2:g.10622559C>G	GRCh38
NC_000008.10:g.10480069C>G , CM000670.1:g.10480069C>G	GRCh37
NC_000008.9:g.10517479C>G	NCBI36
NG_028035.1:g.37549G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.609+34G>C MANE Select	ENSP00000371923.3:n.609+34G>C
ENST00000329335.3:n.859+34G>C
ENST00000382483.3:c.609+34G>C	ENSP00000371923.3:n.609+34G>C
NM_178857.5:c.609+34G>C	NP_849188.4:n.609+34G>C
NM_178857.6:c.609+34G>C MANE Select	NP_849188.4:n.609+34G>C