Canonical Allele Identifier: CA370300174

Gene: RP1L1

Linked Data

• dbSNP Id: rs1563130933
• gnomAD v2: 8-10480276-T-C
• gnomAD v4: 8-10622766-T-C
• MyVariant Identifiers: chr8:g.10480276T>C (hg19) ; chr8:g.10480276_10480277delinsCC (hg19) ; chr8:g.10622766T>C (hg38) ; chr8:g.10622766_10622767delinsCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622766T>C , CM000670.2:g.10622766T>C	GRCh38
NC_000008.10:g.10480276T>C , CM000670.1:g.10480276T>C	GRCh37
NC_000008.9:g.10517686T>C	NCBI36
NG_028035.1:g.37342A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.436A>G MANE Select	ENSP00000371923.3:p.Lys146Glu
ENST00000329335.3:n.686A>G
ENST00000382483.3:c.436A>G	ENSP00000371923.3:p.Lys146Glu
NM_178857.5:c.436A>G	NP_849188.4:p.Lys146Glu
NM_178857.6:c.436A>G MANE Select	NP_849188.4:p.Lys146Glu