Canonical Allele Identifier: CA412982294

Gene: TSPAN7

Linked Data

• MyVariant Identifiers: chrX:g.38535067C>G (hg19) ; chrX:g.38675813C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675813C>G , CM000685.2:g.38675813C>G	GRCh38
NC_000023.10:g.38535067C>G , CM000685.1:g.38535067C>G	GRCh37
NC_000023.9:g.38420011C>G	NCBI36
NG_009160.1:g.119337C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.550C>G MANE Select	ENSP00000367743.2:p.Gln184Glu
ENST00000286824.6:c.601C>G	ENSP00000286824.6:p.Gln201Glu
ENST00000378482.6:c.550C>G	ENSP00000367743.2:p.Gln184Glu
ENST00000419600.3:n.494C>G
ENST00000465127.1:c.640C>G	ENSP00000417050.1:p.Gln214Glu
ENST00000471410.5:c.*576C>G	ENSP00000419290.1:n.*576C>G
ENST00000475216.5:c.*543C>G	ENSP00000418586.1:n.*543C>G
ENST00000488893.5:n.733C>G
NM_004615.3:c.550C>G	NP_004606.2:p.Gln184Glu
NM_004615.4:c.550C>G MANE Select	NP_004606.2:p.Gln184Glu