Canonical Allele Identifier: CA500120600

Gene: RPL27

Linked Data

• dbSNP Id: rs1166957409
• gnomAD v2: 17-41150854-A-G
• gnomAD v3: 17-42998837-A-G
• gnomAD v4: 17-42998837-A-G
• MyVariant Identifiers: chr17:g.41150854A>G (hg19) ; chr17:g.42998837A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998837A>G , CM000679.2:g.42998837A>G	GRCh38
NC_000017.10:g.41150854A>G , CM000679.1:g.41150854A>G	GRCh37
NC_000017.9:g.38404380A>G	NCBI36
NG_053099.1:g.5565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+6A>G MANE Select	ENSP00000253788.5:n.81+6A>G
ENST00000589913.6:c.81+6A>G	ENSP00000464813.1:n.81+6A>G
ENST00000590864.2:c.81+6A>G	ENSP00000467939.2:n.81+6A>G
ENST00000253788.9:c.81+6A>G	ENSP00000253788.4:n.81+6A>G
ENST00000586277.5:c.29A>G
ENST00000587478.1:n.142A>G
ENST00000588830.1:c.81+6A>G	ENSP00000468468.1:n.81+6A>G
ENST00000589037.5:c.81+6A>G	ENSP00000467587.1:n.81+6A>G
ENST00000589913.5:c.81+6A>G	ENSP00000464813.1:n.81+6A>G
ENST00000593262.1:n.419A>G
NM_000988.3:c.81+6A>G	NP_000979.1:n.81+6A>G
NM_000988.5:c.81+6A>G MANE Select	NP_000979.1:n.81+6A>G
NM_001349921.1:c.81+6A>G	NP_001336850.1:n.81+6A>G
NM_001349922.1:c.81+6A>G	NP_001336851.1:n.81+6A>G
NR_146327.1:n.164+6A>G
NM_001349921.2:c.81+6A>G	NP_001336850.1:n.81+6A>G
NM_001349922.2:c.81+6A>G	NP_001336851.1:n.81+6A>G
NR_146327.2:n.136+6A>G