Canonical Allele Identifier: CA412982302

Gene: TSPAN7

Linked Data

• gnomAD v4: X-38675816-G-T
• MyVariant Identifiers: chrX:g.38535070G>T (hg19) ; chrX:g.38675816G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675816G>T , CM000685.2:g.38675816G>T	GRCh38
NC_000023.10:g.38535070G>T , CM000685.1:g.38535070G>T	GRCh37
NC_000023.9:g.38420014G>T	NCBI36
NG_009160.1:g.119340G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.553G>T MANE Select	ENSP00000367743.2:p.Asp185Tyr
ENST00000286824.6:c.604G>T	ENSP00000286824.6:p.Asp202Tyr
ENST00000378482.6:c.553G>T	ENSP00000367743.2:p.Asp185Tyr
ENST00000419600.3:n.497G>T
ENST00000465127.1:c.643G>T	ENSP00000417050.1:p.Asp215Tyr
ENST00000471410.5:c.*579G>T	ENSP00000419290.1:n.*579G>T
ENST00000475216.5:c.*546G>T	ENSP00000418586.1:n.*546G>T
ENST00000488893.5:n.736G>T
NM_004615.3:c.553G>T	NP_004606.2:p.Asp185Tyr
NM_004615.4:c.553G>T MANE Select	NP_004606.2:p.Asp185Tyr