Canonical Allele Identifier: CA412982276

Gene: TSPAN7

Linked Data

• gnomAD v3: X-38675805-G-C
• gnomAD v4: X-38675805-G-C
• MyVariant Identifiers: chrX:g.38535059G>C (hg19) ; chrX:g.38675805G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675805G>C , CM000685.2:g.38675805G>C	GRCh38
NC_000023.10:g.38535059G>C , CM000685.1:g.38535059G>C	GRCh37
NC_000023.9:g.38420003G>C	NCBI36
NG_009160.1:g.119329G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.542G>C MANE Select	ENSP00000367743.2:p.Cys181Ser
ENST00000286824.6:c.593G>C	ENSP00000286824.6:p.Cys198Ser
ENST00000378482.6:c.542G>C	ENSP00000367743.2:p.Cys181Ser
ENST00000419600.3:n.486G>C
ENST00000465127.1:c.632G>C	ENSP00000417050.1:p.Cys211Ser
ENST00000471410.5:c.*568G>C	ENSP00000419290.1:n.*568G>C
ENST00000475216.5:c.*535G>C	ENSP00000418586.1:n.*535G>C
ENST00000488893.5:n.725G>C
NM_004615.3:c.542G>C	NP_004606.2:p.Cys181Ser
NM_004615.4:c.542G>C MANE Select	NP_004606.2:p.Cys181Ser