Canonical Allele Identifier: CA369133782

Gene: TSPAN12

Linked Data

• gnomAD v4: 7-120788816-C-A
• MyVariant Identifiers: chr7:g.120428870C>A (hg19) ; chr7:g.120788816C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.120788816C>A , CM000669.2:g.120788816C>A	GRCh38
NC_000007.13:g.120428870C>A , CM000669.1:g.120428870C>A	GRCh37
NC_000007.12:g.120216106C>A	NCBI36
NG_023203.1:g.74308G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222747.8:c.694G>T MANE Select	ENSP00000222747.3:p.Val232Leu
ENST00000222747.7:c.694G>T	ENSP00000222747.3:p.Val232Leu
ENST00000415871.5:c.694G>T	ENSP00000397699.1:p.Val232Leu
ENST00000450414.5:c.673G>T	ENSP00000397411.1:n.673G>T
NM_012338.3:c.694G>T	NP_036470.1:p.Val232Leu
XM_005250239.1:c.694G>T	XP_005250296.1:p.Val232Leu
XM_011515993.1:c.694G>T	XP_011514295.1:p.Val232Leu
XM_011515994.1:c.694G>T	XP_011514296.1:p.Val232Leu
XM_005250239.3:c.694G>T	XP_005250296.1:p.Val232Leu
XM_017011913.1:c.619G>T	XP_016867402.1:p.Val207Leu
NM_012338.4:c.694G>T MANE Select	NP_036470.1:p.Val232Leu