Canonical Allele Identifier: CA290823456

Gene: RPL27

Linked Data

• dbSNP Id: rs898366567
• gnomAD v4: 17-42998604-A-C
• MyVariant Identifiers: chr17:g.41150621A>C (hg19) ; chr17:g.42998604A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998604A>C , CM000679.2:g.42998604A>C	GRCh38
NC_000017.10:g.41150621A>C , CM000679.1:g.41150621A>C	GRCh37
NC_000017.9:g.38404147A>C	NCBI36
NG_053099.1:g.5332A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.-3+133A>C MANE Select	ENSP00000253788.5:n.-3+133A>C
ENST00000589913.6:c.-147A>C	ENSP00000464813.1:n.-147A>C
ENST00000253788.9:c.-3+133A>C	ENSP00000253788.4:n.-3+133A>C
ENST00000587478.1:n.53+133A>C
ENST00000588830.1:c.-3+133A>C	ENSP00000468468.1:n.-3+133A>C
ENST00000589037.5:c.-2-145A>C	ENSP00000467587.1:n.-2-145A>C
ENST00000589913.5:c.-147A>C	ENSP00000464813.1:n.-147A>C
ENST00000593262.1:n.186A>C
NM_000988.3:c.-3+133A>C	NP_000979.1:n.-3+133A>C
NM_000988.5:c.-3+133A>C MANE Select	NP_000979.1:n.-3+133A>C
NM_001349921.1:c.-2-145A>C	NP_001336850.1:n.-2-145A>C
NM_001349922.1:c.-147A>C	NP_001336851.1:n.-147A>C
NR_146327.1:n.81+133A>C
NM_001349921.2:c.-2-145A>C	NP_001336850.1:n.-2-145A>C
NM_001349922.2:c.-147A>C	NP_001336851.1:n.-147A>C
NR_146327.2:n.53+133A>C