Canonical Allele Identifier: CA370296029

Gene: RP1L1

Linked Data

• gnomAD v4: 8-10612899-T-G
• MyVariant Identifiers: chr8:g.10470409T>G (hg19) ; chr8:g.10612899T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10612899T>G , CM000670.2:g.10612899T>G	GRCh38
NC_000008.10:g.10470409T>G , CM000670.1:g.10470409T>G	GRCh37
NC_000008.9:g.10507819T>G	NCBI36
NG_028035.1:g.47209A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.1199A>C MANE Select	ENSP00000371923.3:p.Gln400Pro
ENST00000382483.3:c.1199A>C	ENSP00000371923.3:p.Gln400Pro
NM_178857.5:c.1199A>C	NP_849188.4:p.Gln400Pro
NM_178857.6:c.1199A>C MANE Select	NP_849188.4:p.Gln400Pro