Canonical Allele Identifier: CA345742684

Gene: RPS7

Linked Data

• ClinVar Variation Id: 1383790
• ClinVar RCV Id: RCV001892868
• dbSNP Id: rs758369264
• gnomAD v3: 2-3575820-C-T
• gnomAD v4: 2-3575820-C-T
• MyVariant Identifiers: chr2:g.3623410C>T (hg19) ; chr2:g.3575820C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000407445.8:c.79C>T	ENSP00000385729.3:p.Leu27Phe
ENST00000491937.6:n.125C>T
ENST00000645674.2:c.79C>T MANE Select	ENSP00000496757.1:p.Leu27Phe
ENST00000646909.1:c.79C>T	ENSP00000496654.1:p.Leu27Phe
ENST00000647131.1:c.79C>T	ENSP00000494995.1:p.Leu27Phe
ENST00000304921.9:c.79C>T	ENSP00000339095.4:p.Leu27Phe
ENST00000403564.5:c.79C>T	ENSP00000385018.1:p.Leu27Phe
ENST00000406376.1:c.79C>T	ENSP00000385286.1:p.Leu27Phe
ENST00000407445.7:c.79C>T	ENSP00000385729.3:p.Leu27Phe
ENST00000462576.5:n.364C>T
ENST00000479123.1:n.56C>T
ENST00000481006.1:n.331C>T
ENST00000491937.5:n.344C>T
NM_001011.3:c.79C>T	NP_001002.1:p.Leu27Phe
NM_001011.4:c.79C>T MANE Select	NP_001002.1:p.Leu27Phe