Canonical Allele Identifier: CA2686114279

Gene: RP1L1

Linked Data

• gnomAD v4: 8-10622471-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.10622471T>A , CM000670.2:g.10622471T>A	GRCh38
NC_000008.10:g.10479981T>A , CM000670.1:g.10479981T>A	GRCh37
NC_000008.9:g.10517391T>A	NCBI36
NG_028035.1:g.37637A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382483.4:c.609+122A>T MANE Select	ENSP00000371923.3:n.609+122A>T
ENST00000329335.3:n.859+122A>T
ENST00000382483.3:c.609+122A>T	ENSP00000371923.3:n.609+122A>T
NM_178857.5:c.609+122A>T	NP_849188.4:n.609+122A>T
NM_178857.6:c.609+122A>T MANE Select	NP_849188.4:n.609+122A>T