Canonical Allele Identifier: CA2638054756

Gene: RPL27

Linked Data

• gnomAD v4: 17-42999223-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999223C>T , CM000679.2:g.42999223C>T	GRCh38
NC_000017.10:g.41151240C>T , CM000679.1:g.41151240C>T	GRCh37
NC_000017.9:g.38404766C>T	NCBI36
NG_053099.1:g.5951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+392C>T MANE Select	ENSP00000253788.5:n.81+392C>T
ENST00000589913.6:c.81+392C>T	ENSP00000464813.1:n.81+392C>T
ENST00000590864.2:c.*2C>T	ENSP00000467939.2:n.*2C>T
ENST00000253788.9:c.81+392C>T	ENSP00000253788.4:n.81+392C>T
ENST00000586277.5:c.104+311C>T
ENST00000587478.1:n.528C>T
ENST00000588830.1:c.81+392C>T	ENSP00000468468.1:n.81+392C>T
ENST00000589037.5:c.81+392C>T	ENSP00000467587.1:n.81+392C>T
ENST00000589913.5:c.81+392C>T	ENSP00000464813.1:n.81+392C>T
ENST00000593262.1:n.805C>T
NM_000988.3:c.81+392C>T	NP_000979.1:n.81+392C>T
NM_000988.5:c.81+392C>T MANE Select	NP_000979.1:n.81+392C>T
NM_001349921.1:c.81+392C>T	NP_001336850.1:n.81+392C>T
NM_001349922.1:c.81+392C>T	NP_001336851.1:n.81+392C>T
NR_146327.1:n.164+392C>T
NM_001349921.2:c.81+392C>T	NP_001336850.1:n.81+392C>T
NM_001349922.2:c.81+392C>T	NP_001336851.1:n.81+392C>T
NR_146327.2:n.136+392C>T