Canonical Allele Identifier: CA8588871

Gene: RPL27

Linked Data

• dbSNP Id: rs756833034
• ExAC: 17:41150725 T / C
• gnomAD v2: 17-41150725-T-C
• MyVariant Identifiers: chr17:g.41150725T>C (hg19) ; chr17:g.42998708T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998708T>C , CM000679.2:g.42998708T>C	GRCh38
NC_000017.10:g.41150725T>C , CM000679.1:g.41150725T>C	GRCh37
NC_000017.9:g.38404251T>C	NCBI36
NG_053099.1:g.5436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.-2-41T>C MANE Select	ENSP00000253788.5:n.-2-41T>C
ENST00000589913.6:c.-43T>C	ENSP00000464813.1:n.-43T>C
ENST00000590864.2:c.-43T>C	ENSP00000467939.2:n.-43T>C
ENST00000253788.9:c.-2-41T>C	ENSP00000253788.4:n.-2-41T>C
ENST00000587478.1:n.54-41T>C
ENST00000588830.1:c.-2-41T>C	ENSP00000468468.1:n.-2-41T>C
ENST00000589037.5:c.-2-41T>C	ENSP00000467587.1:n.-2-41T>C
ENST00000589913.5:c.-43T>C	ENSP00000464813.1:n.-43T>C
ENST00000593262.1:n.290T>C
NM_000988.3:c.-2-41T>C	NP_000979.1:n.-2-41T>C
NM_000988.5:c.-2-41T>C MANE Select	NP_000979.1:n.-2-41T>C
NM_001349921.1:c.-2-41T>C	NP_001336850.1:n.-2-41T>C
NM_001349922.1:c.-43T>C	NP_001336851.1:n.-43T>C
NR_146327.1:n.82-41T>C
NM_001349921.2:c.-2-41T>C	NP_001336850.1:n.-2-41T>C
NM_001349922.2:c.-43T>C	NP_001336851.1:n.-43T>C
NR_146327.2:n.54-41T>C