Canonical Allele Identifier: CA290823357

Gene: RPL27

Linked Data

• dbSNP Id: rs574294813
• gnomAD v2: 17-41150489-G-C
• gnomAD v3: 17-42998472-G-C
• gnomAD v4: 17-42998472-G-C
• MyVariant Identifiers: chr17:g.41150489G>C (hg19) ; chr17:g.42998472G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998472G>C , CM000679.2:g.42998472G>C	GRCh38
NC_000017.10:g.41150489G>C , CM000679.1:g.41150489G>C	GRCh37
NC_000017.9:g.38404015G>C	NCBI36
NG_053099.1:g.5200G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.-3+1G>C MANE Select	ENSP00000253788.5:n.-3+1G>C
ENST00000589913.6:c.-279G>C	ENSP00000464813.1:n.-279G>C
ENST00000253788.9:c.-3+1G>C	ENSP00000253788.4:n.-3+1G>C
ENST00000587478.1:n.53+1G>C
ENST00000588830.1:c.-3+1G>C	ENSP00000468468.1:n.-3+1G>C
ENST00000589037.5:c.-3+57G>C	ENSP00000467587.1:n.-3+57G>C
ENST00000593262.1:n.54G>C
NM_000988.3:c.-3+1G>C	NP_000979.1:n.-3+1G>C
NM_000988.5:c.-3+1G>C MANE Select	NP_000979.1:n.-3+1G>C
NM_001349921.1:c.-3+57G>C	NP_001336850.1:n.-3+57G>C
NM_001349922.1:c.-279G>C	NP_001336851.1:n.-279G>C
NR_146327.1:n.81+1G>C
NM_001349921.2:c.-3+57G>C	NP_001336850.1:n.-3+57G>C
NM_001349922.2:c.-279G>C	NP_001336851.1:n.-279G>C
NR_146327.2:n.53+1G>C