Canonical Allele Identifier: CA370299744
Gene: RP1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622621T>A , CM000670.2:g.10622621T>A GRCh38
NC_000008.10:g.10480131T>A , CM000670.1:g.10480131T>A GRCh37
NC_000008.9:g.10517541T>A NCBI36
NG_028035.1:g.37487A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.581A>T MANE Select ENSP00000371923.3:p.Lys194Met
ENST00000329335.3:n.831A>T
ENST00000382483.3:c.581A>T ENSP00000371923.3:p.Lys194Met
NM_178857.5:c.581A>T NP_849188.4:p.Lys194Met
NM_178857.6:c.581A>T MANE Select NP_849188.4:p.Lys194Met