Canonical Allele Identifier: CA8588872

Gene: RPL27

Linked Data

• dbSNP Id: rs780842058
• ExAC: 17:41150728 C / A
• gnomAD v2: 17-41150728-C-A
• gnomAD v4: 17-42998711-C-A
• MyVariant Identifiers: chr17:g.41150728C>A (hg19) ; chr17:g.42998711C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998711C>A , CM000679.2:g.42998711C>A	GRCh38
NC_000017.10:g.41150728C>A , CM000679.1:g.41150728C>A	GRCh37
NC_000017.9:g.38404254C>A	NCBI36
NG_053099.1:g.5439C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.-2-38C>A MANE Select	ENSP00000253788.5:n.-2-38C>A
ENST00000589913.6:c.-40C>A	ENSP00000464813.1:n.-40C>A
ENST00000590864.2:c.-40C>A	ENSP00000467939.2:n.-40C>A
ENST00000253788.9:c.-2-38C>A	ENSP00000253788.4:n.-2-38C>A
ENST00000587478.1:n.54-38C>A
ENST00000588830.1:c.-2-38C>A	ENSP00000468468.1:n.-2-38C>A
ENST00000589037.5:c.-2-38C>A	ENSP00000467587.1:n.-2-38C>A
ENST00000589913.5:c.-40C>A	ENSP00000464813.1:n.-40C>A
ENST00000593262.1:n.293C>A
NM_000988.3:c.-2-38C>A	NP_000979.1:n.-2-38C>A
NM_000988.5:c.-2-38C>A MANE Select	NP_000979.1:n.-2-38C>A
NM_001349921.1:c.-2-38C>A	NP_001336850.1:n.-2-38C>A
NM_001349922.1:c.-40C>A	NP_001336851.1:n.-40C>A
NR_146327.1:n.82-38C>A
NM_001349921.2:c.-2-38C>A	NP_001336850.1:n.-2-38C>A
NM_001349922.2:c.-40C>A	NP_001336851.1:n.-40C>A
NR_146327.2:n.54-38C>A