Canonical Allele Identifier: CA424603419
Gene: RPS7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.3623412T>C (hg19)

Genomic Alleles

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

Transcript Alleles

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