Canonical Allele Identifier: CA515685412

Gene: TSPAN7

Linked Data

• gnomAD v4: X-38675812-C-T
• MyVariant Identifiers: chrX:g.38535066C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675812C>T , CM000685.2:g.38675812C>T	GRCh38
NC_000023.10:g.38535066C>T , CM000685.1:g.38535066C>T	GRCh37
NC_000023.9:g.38420010C>T	NCBI36
NG_009160.1:g.119336C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.549C>T MANE Select	ENSP00000367743.2:p.Pro183=
ENST00000286824.6:c.600C>T	ENSP00000286824.6:p.Pro200=
ENST00000378482.6:c.549C>T	ENSP00000367743.2:p.Pro183=
ENST00000419600.3:n.493C>T
ENST00000465127.1:c.639C>T	ENSP00000417050.1:p.Pro213=
ENST00000471410.5:c.*575C>T	ENSP00000419290.1:n.*575C>T
ENST00000475216.5:c.*542C>T	ENSP00000418586.1:n.*542C>T
ENST00000488893.5:n.732C>T
NM_004615.3:c.549C>T	NP_004606.2:p.Pro183=
NM_004615.4:c.549C>T MANE Select	NP_004606.2:p.Pro183=