Canonical Allele Identifier: CA8588914

Gene: RPL27

Linked Data

• ClinVar Variation Id: 1251530
• ClinVar RCV Id: RCV001657467
• dbSNP Id: rs2271539
• ExAC: 17:41150949 G / A
• gnomAD v2: 17-41150949-G-A
• gnomAD v3: 17-42998932-G-A
• gnomAD v4: 17-42998932-G-A
• MyVariant Identifiers: chr17:g.41150949G>A (hg19) ; chr17:g.42998932G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998932G>A , CM000679.2:g.42998932G>A	GRCh38
NC_000017.10:g.41150949G>A , CM000679.1:g.41150949G>A	GRCh37
NC_000017.9:g.38404475G>A	NCBI36
NG_053099.1:g.5660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+101G>A MANE Select	ENSP00000253788.5:n.81+101G>A
ENST00000589913.6:c.81+101G>A	ENSP00000464813.1:n.81+101G>A
ENST00000590864.2:c.81+101G>A	ENSP00000467939.2:n.81+101G>A
ENST00000253788.9:c.81+101G>A	ENSP00000253788.4:n.81+101G>A
ENST00000586277.5:c.104+20G>A
ENST00000587478.1:n.237G>A
ENST00000588830.1:c.81+101G>A	ENSP00000468468.1:n.81+101G>A
ENST00000589037.5:c.81+101G>A	ENSP00000467587.1:n.81+101G>A
ENST00000589913.5:c.81+101G>A	ENSP00000464813.1:n.81+101G>A
ENST00000593262.1:n.514G>A
NM_000988.3:c.81+101G>A	NP_000979.1:n.81+101G>A
NM_000988.5:c.81+101G>A MANE Select	NP_000979.1:n.81+101G>A
NM_001349921.1:c.81+101G>A	NP_001336850.1:n.81+101G>A
NM_001349922.1:c.81+101G>A	NP_001336851.1:n.81+101G>A
NR_146327.1:n.164+101G>A
NM_001349921.2:c.81+101G>A	NP_001336850.1:n.81+101G>A
NM_001349922.2:c.81+101G>A	NP_001336851.1:n.81+101G>A
NR_146327.2:n.136+101G>A