Canonical Allele Identifier: CA1516555

Gene: RPS7

Linked Data

• ClinVar Variation Id: 2038414
• ClinVar RCV Id: RCV002894936
• dbSNP Id: rs758369264
• ExAC: 2:3623410 C / A
• gnomAD v2: 2-3623410-C-A
• gnomAD v3: 2-3575820-C-A
• gnomAD v4: 2-3575820-C-A
• MyVariant Identifiers: chr2:g.3623410C>A (hg19) ; chr2:g.3575820C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3575820C>A , CM000664.2:g.3575820C>A	GRCh38
NC_000002.11:g.3623410C>A , CM000664.1:g.3623410C>A	GRCh37
NC_000002.10:g.3601285C>A	NCBI36
NG_011744.1:g.5558C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000407445.8:c.79C>A	ENSP00000385729.3:p.Leu27Ile
ENST00000491937.6:n.125C>A
ENST00000645674.2:c.79C>A MANE Select	ENSP00000496757.1:p.Leu27Ile
ENST00000646909.1:c.79C>A	ENSP00000496654.1:p.Leu27Ile
ENST00000647131.1:c.79C>A	ENSP00000494995.1:p.Leu27Ile
ENST00000304921.9:c.79C>A	ENSP00000339095.4:p.Leu27Ile
ENST00000403564.5:c.79C>A	ENSP00000385018.1:p.Leu27Ile
ENST00000406376.1:c.79C>A	ENSP00000385286.1:p.Leu27Ile
ENST00000407445.7:c.79C>A	ENSP00000385729.3:p.Leu27Ile
ENST00000462576.5:n.364C>A
ENST00000479123.1:n.56C>A
ENST00000481006.1:n.331C>A
ENST00000491937.5:n.344C>A
NM_001011.3:c.79C>A	NP_001002.1:p.Leu27Ile
NM_001011.4:c.79C>A MANE Select	NP_001002.1:p.Leu27Ile