Canonical Allele Identifier: CA4625281
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs199965953
gnomAD v2: 8-10470443-C-T
gnomAD v3: 8-10612933-C-T
gnomAD v4: 8-10612933-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612933C>T , CM000670.2:g.10612933C>T GRCh38
NC_000008.10:g.10470443C>T , CM000670.1:g.10470443C>T GRCh37
NC_000008.9:g.10507853C>T NCBI36
NG_028035.1:g.47175G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1165G>A MANE Select ENSP00000371923.3:p.Val389Met
ENST00000382483.3:c.1165G>A ENSP00000371923.3:p.Val389Met
NM_178857.5:c.1165G>A NP_849188.4:p.Val389Met
NM_178857.6:c.1165G>A MANE Select NP_849188.4:p.Val389Met