Canonical Allele Identifier: CA515685530
Gene: TSPAN7 HGNC NCBI

Linked Data

dbSNP Id: rs2069850284
MyVariant Identifiers: chrX:g.38535096C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38675842C>T , CM000685.2:g.38675842C>T GRCh38
NC_000023.10:g.38535096C>T , CM000685.1:g.38535096C>T GRCh37
NC_000023.9:g.38420040C>T NCBI36
NG_009160.1:g.119366C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378482.7:c.579C>T MANE Select ENSP00000367743.2:p.Ala193=
ENST00000286824.6:c.630C>T ENSP00000286824.6:p.Ala210=
ENST00000378482.6:c.579C>T ENSP00000367743.2:p.Ala193=
ENST00000419600.3:n.523C>T
ENST00000465127.1:c.669C>T ENSP00000417050.1:p.Ala223=
ENST00000471410.5:c.*605C>T ENSP00000419290.1:n.*605C>T
ENST00000475216.5:c.*572C>T ENSP00000418586.1:n.*572C>T
NM_004615.3:c.579C>T NP_004606.2:p.Ala193=
NM_004615.4:c.579C>T MANE Select NP_004606.2:p.Ala193=