Canonical Allele Identifier: CA412982369

Gene: TSPAN7

Linked Data

• MyVariant Identifiers: chrX:g.38535103G>A (hg19) ; chrX:g.38675849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675849G>A , CM000685.2:g.38675849G>A	GRCh38
NC_000023.10:g.38535103G>A , CM000685.1:g.38535103G>A	GRCh37
NC_000023.9:g.38420047G>A	NCBI36
NG_009160.1:g.119373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.586G>A MANE Select	ENSP00000367743.2:p.Val196Ile
ENST00000286824.6:c.637G>A	ENSP00000286824.6:p.Val213Ile
ENST00000378482.6:c.586G>A	ENSP00000367743.2:p.Val196Ile
ENST00000419600.3:n.530G>A
ENST00000465127.1:c.676G>A	ENSP00000417050.1:p.Val226Ile
ENST00000471410.5:c.*612G>A	ENSP00000419290.1:n.*612G>A
ENST00000475216.5:c.*579G>A	ENSP00000418586.1:n.*579G>A
NM_004615.3:c.586G>A	NP_004606.2:p.Val196Ile
NM_004615.4:c.586G>A MANE Select	NP_004606.2:p.Val196Ile