Canonical Allele Identifier: CA171944331
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs373510217
gnomAD v4: 8-10611032-T-G
MyVariant Identifiers: chr8:g.10468542T>G (hg19) chr8:g.10611032T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10611032T>G , CM000670.2:g.10611032T>G GRCh38
NC_000008.10:g.10468542T>G , CM000670.1:g.10468542T>G GRCh37
NC_000008.9:g.10505952T>G NCBI36
NG_028035.1:g.49076A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.3066A>C MANE Select ENSP00000371923.3:p.Pro1022=
ENST00000382483.3:c.3066A>C ENSP00000371923.3:p.Pro1022=
NM_178857.5:c.3066A>C NP_849188.4:p.Pro1022=
NM_178857.6:c.3066A>C MANE Select NP_849188.4:p.Pro1022=
Search 100 bp 5'
Search 100 bp 3'