Canonical Allele Identifier: CA412982280

Gene: TSPAN7

Linked Data

• MyVariant Identifiers: chrX:g.38535061A>C (hg19) ; chrX:g.38675807A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675807A>C , CM000685.2:g.38675807A>C	GRCh38
NC_000023.10:g.38535061A>C , CM000685.1:g.38535061A>C	GRCh37
NC_000023.9:g.38420005A>C	NCBI36
NG_009160.1:g.119331A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.544A>C MANE Select	ENSP00000367743.2:p.Asn182His
ENST00000286824.6:c.595A>C	ENSP00000286824.6:p.Asn199His
ENST00000378482.6:c.544A>C	ENSP00000367743.2:p.Asn182His
ENST00000419600.3:n.488A>C
ENST00000465127.1:c.634A>C	ENSP00000417050.1:p.Asn212His
ENST00000471410.5:c.*570A>C	ENSP00000419290.1:n.*570A>C
ENST00000475216.5:c.*537A>C	ENSP00000418586.1:n.*537A>C
ENST00000488893.5:n.727A>C
NM_004615.3:c.544A>C	NP_004606.2:p.Asn182His
NM_004615.4:c.544A>C MANE Select	NP_004606.2:p.Asn182His