Canonical Allele Identifier: CA4625794
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs748807865
gnomAD v2: 8-10480462-G-T
gnomAD v3: 8-10622952-G-T
gnomAD v4: 8-10622952-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622952G>T , CM000670.2:g.10622952G>T GRCh38
NC_000008.10:g.10480462G>T , CM000670.1:g.10480462G>T GRCh37
NC_000008.9:g.10517872G>T NCBI36
NG_028035.1:g.37156C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.250C>A MANE Select ENSP00000371923.3:p.Pro84Thr
ENST00000329335.3:n.500C>A
ENST00000382483.3:c.250C>A ENSP00000371923.3:p.Pro84Thr
NM_178857.5:c.250C>A NP_849188.4:p.Pro84Thr
NM_178857.6:c.250C>A MANE Select NP_849188.4:p.Pro84Thr