Canonical Allele Identifier: CA290823460

Gene: RPL27

Linked Data

• dbSNP Id: rs987283561
• gnomAD v3: 17-42998625-C-T
• gnomAD v4: 17-42998625-C-T
• MyVariant Identifiers: chr17:g.41150642C>T (hg19) ; chr17:g.42998625C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998625C>T , CM000679.2:g.42998625C>T	GRCh38
NC_000017.10:g.41150642C>T , CM000679.1:g.41150642C>T	GRCh37
NC_000017.9:g.38404168C>T	NCBI36
NG_053099.1:g.5353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.-2-124C>T MANE Select	ENSP00000253788.5:n.-2-124C>T
ENST00000589913.6:c.-126C>T	ENSP00000464813.1:n.-126C>T
ENST00000253788.9:c.-2-124C>T	ENSP00000253788.4:n.-2-124C>T
ENST00000587478.1:n.54-124C>T
ENST00000588830.1:c.-2-124C>T	ENSP00000468468.1:n.-2-124C>T
ENST00000589037.5:c.-2-124C>T	ENSP00000467587.1:n.-2-124C>T
ENST00000589913.5:c.-126C>T	ENSP00000464813.1:n.-126C>T
ENST00000593262.1:n.207C>T
NM_000988.3:c.-2-124C>T	NP_000979.1:n.-2-124C>T
NM_000988.5:c.-2-124C>T MANE Select	NP_000979.1:n.-2-124C>T
NM_001349921.1:c.-2-124C>T	NP_001336850.1:n.-2-124C>T
NM_001349922.1:c.-126C>T	NP_001336851.1:n.-126C>T
NR_146327.1:n.82-124C>T
NM_001349921.2:c.-2-124C>T	NP_001336850.1:n.-2-124C>T
NM_001349922.2:c.-126C>T	NP_001336851.1:n.-126C>T
NR_146327.2:n.54-124C>T