Canonical Allele Identifier: CA424603417

Gene: RPS7

Linked Data

• ClinVar Variation Id: 2796669
• ClinVar RCV Id: RCV003616129
• dbSNP Id: rs1661262693
• gnomAD v3: 2-3575822-T-A
• gnomAD v4: 2-3575822-T-A
• MyVariant Identifiers: chr2:g.3623412T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3575822T>A , CM000664.2:g.3575822T>A	GRCh38
NC_000002.11:g.3623412T>A , CM000664.1:g.3623412T>A	GRCh37
NC_000002.10:g.3601287T>A	NCBI36
NG_011744.1:g.5560T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000407445.8:c.81T>A	ENSP00000385729.3:p.Leu27=
ENST00000491937.6:n.127T>A
ENST00000645674.2:c.81T>A MANE Select	ENSP00000496757.1:p.Leu27=
ENST00000646909.1:c.81T>A	ENSP00000496654.1:p.Leu27=
ENST00000647131.1:c.81T>A	ENSP00000494995.1:p.Leu27=
ENST00000304921.9:c.81T>A	ENSP00000339095.4:p.Leu27=
ENST00000403564.5:c.81T>A	ENSP00000385018.1:p.Leu27=
ENST00000406376.1:c.81T>A	ENSP00000385286.1:p.Leu27=
ENST00000407445.7:c.81T>A	ENSP00000385729.3:p.Leu27=
ENST00000462576.5:n.366T>A
ENST00000479123.1:n.58T>A
ENST00000481006.1:n.333T>A
ENST00000491937.5:n.346T>A
NM_001011.3:c.81T>A	NP_001002.1:p.Leu27=
NM_001011.4:c.81T>A MANE Select	NP_001002.1:p.Leu27=