Canonical Allele Identifier: CA328161086

Gene: TSPAN7

Linked Data

• dbSNP Id: rs1016130945
• gnomAD v3: X-38675814-A-C
• gnomAD v4: X-38675814-A-C
• MyVariant Identifiers: chrX:g.38535068A>C (hg19) ; chrX:g.38675814A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675814A>C , CM000685.2:g.38675814A>C	GRCh38
NC_000023.10:g.38535068A>C , CM000685.1:g.38535068A>C	GRCh37
NC_000023.9:g.38420012A>C	NCBI36
NG_009160.1:g.119338A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.551A>C MANE Select	ENSP00000367743.2:p.Gln184Pro
ENST00000286824.6:c.602A>C	ENSP00000286824.6:p.Gln201Pro
ENST00000378482.6:c.551A>C	ENSP00000367743.2:p.Gln184Pro
ENST00000419600.3:n.495A>C
ENST00000465127.1:c.641A>C	ENSP00000417050.1:p.Gln214Pro
ENST00000471410.5:c.*577A>C	ENSP00000419290.1:n.*577A>C
ENST00000475216.5:c.*544A>C	ENSP00000418586.1:n.*544A>C
ENST00000488893.5:n.734A>C
NM_004615.3:c.551A>C	NP_004606.2:p.Gln184Pro
NM_004615.4:c.551A>C MANE Select	NP_004606.2:p.Gln184Pro