Canonical Allele Identifier: CA2638053471

Gene: RPL27

Linked Data

• gnomAD v4: 17-42998605-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998605G>T , CM000679.2:g.42998605G>T	GRCh38
NC_000017.10:g.41150622G>T , CM000679.1:g.41150622G>T	GRCh37
NC_000017.9:g.38404148G>T	NCBI36
NG_053099.1:g.5333G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.-3+134G>T MANE Select	ENSP00000253788.5:n.-3+134G>T
ENST00000589913.6:c.-146G>T	ENSP00000464813.1:n.-146G>T
ENST00000253788.9:c.-3+134G>T	ENSP00000253788.4:n.-3+134G>T
ENST00000587478.1:n.53+134G>T
ENST00000588830.1:c.-3+134G>T	ENSP00000468468.1:n.-3+134G>T
ENST00000589037.5:c.-2-144G>T	ENSP00000467587.1:n.-2-144G>T
ENST00000589913.5:c.-146G>T	ENSP00000464813.1:n.-146G>T
ENST00000593262.1:n.187G>T
NM_000988.3:c.-3+134G>T	NP_000979.1:n.-3+134G>T
NM_000988.5:c.-3+134G>T MANE Select	NP_000979.1:n.-3+134G>T
NM_001349921.1:c.-2-144G>T	NP_001336850.1:n.-2-144G>T
NM_001349922.1:c.-146G>T	NP_001336851.1:n.-146G>T
NR_146327.1:n.81+134G>T
NM_001349921.2:c.-2-144G>T	NP_001336850.1:n.-2-144G>T
NM_001349922.2:c.-146G>T	NP_001336851.1:n.-146G>T
NR_146327.2:n.53+134G>T