Canonical Allele Identifier: CA8588895
Gene: RPL27 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.42998838G>C
GRCh37 chr17:g.41150855G>C
gnomAD v2:
17:41150855 G / C
gnomAD v4:
chr17-42998838-G-C
Joint Max Group AF 0.00004349 (EAS)
Exomes Max Group AF 0.00004911 (EAS)
ClinVar Allele:
2967585
ClinVar RCV:
RCV003676617
ClinVar Variation:
2805202
dbSNP:
758763079
JSON-LD

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
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