Canonical Allele Identifier: CA10386128

Gene: TSPAN7

Linked Data

• dbSNP Id: rs750614655
• ExAC: X:38535087 T / A
• gnomAD v2: X-38535087-T-A
• gnomAD v4: X-38675833-T-A
• MyVariant Identifiers: chrX:g.38535087T>A (hg19) ; chrX:g.38675833T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675833T>A , CM000685.2:g.38675833T>A	GRCh38
NC_000023.10:g.38535087T>A , CM000685.1:g.38535087T>A	GRCh37
NC_000023.9:g.38420031T>A	NCBI36
NG_009160.1:g.119357T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.570T>A MANE Select	ENSP00000367743.2:p.Thr190=
ENST00000286824.6:c.621T>A	ENSP00000286824.6:p.Thr207=
ENST00000378482.6:c.570T>A	ENSP00000367743.2:p.Thr190=
ENST00000419600.3:n.514T>A
ENST00000465127.1:c.660T>A	ENSP00000417050.1:p.Thr220=
ENST00000471410.5:c.*596T>A	ENSP00000419290.1:n.*596T>A
ENST00000475216.5:c.*563T>A	ENSP00000418586.1:n.*563T>A
NM_004615.3:c.570T>A	NP_004606.2:p.Thr190=
NM_004615.4:c.570T>A MANE Select	NP_004606.2:p.Thr190=