Canonical Allele Identifier: CA269452

Gene: TSPAN12

Linked Data

• ClinVar Variation Id: 126503
• ClinVar RCV Id: RCV000114398
• dbSNP Id: rs587777283
• ExAC: 7:120450572 T / C
• gnomAD v2: 7-120450572-T-C
• gnomAD v3: 7-120810518-T-C
• gnomAD v4: 7-120810518-T-C
• MyVariant Identifiers: chr7:g.120450572T>C (hg19) ; chr7:g.120810518T>C (hg38)
• PubMed: PMID:15665352 ; PMID:22427576

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.120810518T>C , CM000669.2:g.120810518T>C	GRCh38
NC_000007.13:g.120450572T>C , CM000669.1:g.120450572T>C	GRCh37
NC_000007.12:g.120237808T>C	NCBI36
NG_023203.1:g.52606A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222747.8:c.413A>G MANE Select	ENSP00000222747.3:p.Tyr138Cys
ENST00000222747.7:c.413A>G	ENSP00000222747.3:p.Tyr138Cys
ENST00000415871.5:c.413A>G	ENSP00000397699.1:p.Tyr138Cys
ENST00000441017.5:c.413A>G	ENSP00000411158.1:p.Tyr138Cys
ENST00000450414.5:c.392A>G	ENSP00000397411.1:n.392A>G
NM_012338.3:c.413A>G	NP_036470.1:p.Tyr138Cys
XM_005250239.1:c.413A>G	XP_005250296.1:p.Tyr138Cys
XM_011515993.1:c.413A>G	XP_011514295.1:p.Tyr138Cys
XM_011515994.1:c.413A>G	XP_011514296.1:p.Tyr138Cys
XM_005250239.3:c.413A>G	XP_005250296.1:p.Tyr138Cys
XM_017011913.1:c.338A>G	XP_016867402.1:p.Tyr113Cys
NM_012338.4:c.413A>G MANE Select	NP_036470.1:p.Tyr138Cys