Canonical Allele Identifier: CA2686114357
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v4: 8-10622574-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622574T>A , CM000670.2:g.10622574T>A GRCh38
NC_000008.10:g.10480084T>A , CM000670.1:g.10480084T>A GRCh37
NC_000008.9:g.10517494T>A NCBI36
NG_028035.1:g.37534A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.609+19A>T MANE Select ENSP00000371923.3:n.609+19A>T
ENST00000329335.3:n.859+19A>T
ENST00000382483.3:c.609+19A>T ENSP00000371923.3:n.609+19A>T
NM_178857.5:c.609+19A>T NP_849188.4:n.609+19A>T
NM_178857.6:c.609+19A>T MANE Select NP_849188.4:n.609+19A>T
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