Canonical Allele Identifier: CA8588895

Gene: RPL27

Linked Data

• ClinVar Variation Id: 2805202
• ClinVar RCV Id: RCV003676617
• dbSNP Id: rs758763079
• ExAC: 17:41150855 G / C
• gnomAD v2: 17-41150855-G-C
• gnomAD v4: 17-42998838-G-C
• MyVariant Identifiers: chr17:g.41150855G>C (hg19) ; chr17:g.42998838G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998838G>C , CM000679.2:g.42998838G>C	GRCh38
NC_000017.10:g.41150855G>C , CM000679.1:g.41150855G>C	GRCh37
NC_000017.9:g.38404381G>C	NCBI36
NG_053099.1:g.5566G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+7G>C MANE Select	ENSP00000253788.5:n.81+7G>C
ENST00000589913.6:c.81+7G>C	ENSP00000464813.1:n.81+7G>C
ENST00000590864.2:c.81+7G>C	ENSP00000467939.2:n.81+7G>C
ENST00000253788.9:c.81+7G>C	ENSP00000253788.4:n.81+7G>C
ENST00000586277.5:c.30G>C
ENST00000587478.1:n.143G>C
ENST00000588830.1:c.81+7G>C	ENSP00000468468.1:n.81+7G>C
ENST00000589037.5:c.81+7G>C	ENSP00000467587.1:n.81+7G>C
ENST00000589913.5:c.81+7G>C	ENSP00000464813.1:n.81+7G>C
ENST00000593262.1:n.420G>C
NM_000988.3:c.81+7G>C	NP_000979.1:n.81+7G>C
NM_000988.5:c.81+7G>C MANE Select	NP_000979.1:n.81+7G>C
NM_001349921.1:c.81+7G>C	NP_001336850.1:n.81+7G>C
NM_001349922.1:c.81+7G>C	NP_001336851.1:n.81+7G>C
NR_146327.1:n.164+7G>C
NM_001349921.2:c.81+7G>C	NP_001336850.1:n.81+7G>C
NM_001349922.2:c.81+7G>C	NP_001336851.1:n.81+7G>C
NR_146327.2:n.136+7G>C