Canonical Allele Identifier: CA165837052

Gene: TSPAN12

Linked Data

• ClinVar Variation Id: 958329
• ClinVar RCV Id: RCV001231477
• dbSNP Id: rs993915239
• gnomAD v3: 7-120810522-T-C
• gnomAD v4: 7-120810522-T-C
• MyVariant Identifiers: chr7:g.120450576T>C (hg19) ; chr7:g.120810522T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.120810522T>C , CM000669.2:g.120810522T>C	GRCh38
NC_000007.13:g.120450576T>C , CM000669.1:g.120450576T>C	GRCh37
NC_000007.12:g.120237812T>C	NCBI36
NG_023203.1:g.52602A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222747.8:c.409A>G MANE Select	ENSP00000222747.3:p.Asn137Asp
ENST00000222747.7:c.409A>G	ENSP00000222747.3:p.Asn137Asp
ENST00000415871.5:c.409A>G	ENSP00000397699.1:p.Asn137Asp
ENST00000441017.5:c.409A>G	ENSP00000411158.1:p.Asn137Asp
ENST00000450414.5:c.388A>G	ENSP00000397411.1:n.388A>G
NM_012338.3:c.409A>G	NP_036470.1:p.Asn137Asp
XM_005250239.1:c.409A>G	XP_005250296.1:p.Asn137Asp
XM_011515993.1:c.409A>G	XP_011514295.1:p.Asn137Asp
XM_011515994.1:c.409A>G	XP_011514296.1:p.Asn137Asp
XM_005250239.3:c.409A>G	XP_005250296.1:p.Asn137Asp
XM_017011913.1:c.334A>G	XP_016867402.1:p.Asn112Asp
NM_012338.4:c.409A>G MANE Select	NP_036470.1:p.Asn137Asp