Canonical Allele Identifier: CA412982156

Gene: TSPAN7

Linked Data

• gnomAD v4: X-38675753-T-A
• MyVariant Identifiers: chrX:g.38535007T>A (hg19) ; chrX:g.38675753T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675753T>A , CM000685.2:g.38675753T>A	GRCh38
NC_000023.10:g.38535007T>A , CM000685.1:g.38535007T>A	GRCh37
NC_000023.9:g.38419951T>A	NCBI36
NG_009160.1:g.119277T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.490T>A MANE Select	ENSP00000367743.2:p.Tyr164Asn
ENST00000286824.6:c.541T>A	ENSP00000286824.6:p.Tyr181Asn
ENST00000378482.6:c.490T>A	ENSP00000367743.2:p.Tyr164Asn
ENST00000419600.3:n.434T>A
ENST00000465127.1:c.580T>A	ENSP00000417050.1:p.Tyr194Asn
ENST00000471410.5:c.*516T>A	ENSP00000419290.1:n.*516T>A
ENST00000475216.5:c.*483T>A	ENSP00000418586.1:n.*483T>A
ENST00000488893.5:n.673T>A
NM_004615.3:c.490T>A	NP_004606.2:p.Tyr164Asn
NM_004615.4:c.490T>A MANE Select	NP_004606.2:p.Tyr164Asn