Canonical Allele Identifier: CA500120545

Gene: RPL27

Linked Data

• ClinVar Variation Id: 2631045
• ClinVar RCV Id: RCV003404418
• gnomAD v4: 17-42998756-C-T
• MyVariant Identifiers: chr17:g.41150773C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998756C>T , CM000679.2:g.42998756C>T	GRCh38
NC_000017.10:g.41150773C>T , CM000679.1:g.41150773C>T	GRCh37
NC_000017.9:g.38404299C>T	NCBI36
NG_053099.1:g.5484C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253788.12:c.6C>T MANE Select	ENSP00000253788.5:p.Gly2=
ENST00000589913.6:c.6C>T	ENSP00000464813.1:p.Gly2=
ENST00000590864.2:c.6C>T	ENSP00000467939.2:p.Gly2=
ENST00000253788.9:c.6C>T	ENSP00000253788.4:p.Gly2=
ENST00000587478.1:n.61C>T
ENST00000588830.1:c.6C>T	ENSP00000468468.1:p.Gly2=
ENST00000589037.5:c.6C>T	ENSP00000467587.1:p.Gly2=
ENST00000589913.5:c.6C>T	ENSP00000464813.1:p.Gly2=
ENST00000593262.1:n.338C>T
NM_000988.3:c.6C>T	NP_000979.1:p.Gly2=
NM_000988.5:c.6C>T MANE Select	NP_000979.1:p.Gly2=
NM_001349921.1:c.6C>T	NP_001336850.1:p.Gly2=
NM_001349922.1:c.6C>T	NP_001336851.1:p.Gly2=
NR_146327.1:n.89C>T
NM_001349921.2:c.6C>T	NP_001336850.1:p.Gly2=
NM_001349922.2:c.6C>T	NP_001336851.1:p.Gly2=
NR_146327.2:n.61C>T