Canonical Allele Identifier: CA399675738

Gene: RPL27

Linked Data

• dbSNP Id: rs2050326806
• gnomAD v4: 17-42998763-A-C
• MyVariant Identifiers: chr17:g.41150780A>C (hg19) ; chr17:g.42998763A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998763A>C , CM000679.2:g.42998763A>C	GRCh38
NC_000017.10:g.41150780A>C , CM000679.1:g.41150780A>C	GRCh37
NC_000017.9:g.38404306A>C	NCBI36
NG_053099.1:g.5491A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253788.12:c.13A>C MANE Select	ENSP00000253788.5:p.Met5Leu
ENST00000589913.6:c.13A>C	ENSP00000464813.1:p.Met5Leu
ENST00000590864.2:c.13A>C	ENSP00000467939.2:p.Met5Leu
ENST00000253788.9:c.13A>C	ENSP00000253788.4:p.Met5Leu
ENST00000587478.1:n.68A>C
ENST00000588830.1:c.13A>C	ENSP00000468468.1:p.Met5Leu
ENST00000589037.5:c.13A>C	ENSP00000467587.1:p.Met5Leu
ENST00000589913.5:c.13A>C	ENSP00000464813.1:p.Met5Leu
ENST00000593262.1:n.345A>C
NM_000988.3:c.13A>C	NP_000979.1:p.Met5Leu
NM_000988.5:c.13A>C MANE Select	NP_000979.1:p.Met5Leu
NM_001349921.1:c.13A>C	NP_001336850.1:p.Met5Leu
NM_001349922.1:c.13A>C	NP_001336851.1:p.Met5Leu
NR_146327.1:n.96A>C
NM_001349921.2:c.13A>C	NP_001336850.1:p.Met5Leu
NM_001349922.2:c.13A>C	NP_001336851.1:p.Met5Leu
NR_146327.2:n.68A>C