Canonical Allele Identifier: CA412982293

Gene: TSPAN7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.550C>A MANE Select	ENSP00000367743.2:p.Gln184Lys
ENST00000286824.6:c.601C>A	ENSP00000286824.6:p.Gln201Lys
ENST00000378482.6:c.550C>A	ENSP00000367743.2:p.Gln184Lys
ENST00000419600.3:n.494C>A
ENST00000465127.1:c.640C>A	ENSP00000417050.1:p.Gln214Lys
ENST00000471410.5:c.*576C>A	ENSP00000419290.1:n.*576C>A
ENST00000475216.5:c.*543C>A	ENSP00000418586.1:n.*543C>A
ENST00000488893.5:n.733C>A
NM_004615.3:c.550C>A	NP_004606.2:p.Gln184Lys
NM_004615.4:c.550C>A MANE Select	NP_004606.2:p.Gln184Lys