Canonical Allele Identifier: CA10581517

Gene: TSPAN12

Linked Data

• ClinVar Variation Id: 236067
• ClinVar RCV Id: RCV000225062 ; RCV000225079 ; RCV000225020 ; RCV001003234 ; RCV003328570
• dbSNP Id: rs878853243
• MyVariant Identifiers: chr7:g.120446673C>A (hg19) ; chr7:g.120806619C>A (hg38)
• PubMed: PMID:25250762

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.120806619C>A , CM000669.2:g.120806619C>A	GRCh38
NC_000007.13:g.120446673C>A , CM000669.1:g.120446673C>A	GRCh37
NC_000007.12:g.120233909C>A	NCBI36
NG_023203.1:g.56505G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222747.8:c.542G>T MANE Select	ENSP00000222747.3:p.Cys181Phe
ENST00000222747.7:c.542G>T	ENSP00000222747.3:p.Cys181Phe
ENST00000415871.5:c.542G>T	ENSP00000397699.1:p.Cys181Phe
ENST00000450414.5:c.521G>T	ENSP00000397411.1:n.521G>T
NM_012338.3:c.542G>T	NP_036470.1:p.Cys181Phe
XM_005250239.1:c.542G>T	XP_005250296.1:p.Cys181Phe
XM_011515993.1:c.542G>T	XP_011514295.1:p.Cys181Phe
XM_011515994.1:c.542G>T	XP_011514296.1:p.Cys181Phe
XM_005250239.3:c.542G>T	XP_005250296.1:p.Cys181Phe
XM_017011913.1:c.467G>T	XP_016867402.1:p.Cys156Phe
NM_012338.4:c.542G>T MANE Select	NP_036470.1:p.Cys181Phe