Canonical Allele Identifier: CA6732532

Gene: TMPO

Linked Data

• ClinVar Variation Id: 1393903
• ClinVar RCV Id: RCV002422991
• dbSNP Id: rs779219922
• ExAC: 12:98928104 G / A
• gnomAD v2: 12-98928104-G-A
• gnomAD v3: 12-98534326-G-A
• gnomAD v4: 12-98534326-G-A
• MyVariant Identifiers: chr12:g.98928104G>A (hg19) ; chr12:g.98534326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.98534326G>A , CM000674.2:g.98534326G>A	GRCh38
NC_000012.11:g.98928104G>A , CM000674.1:g.98928104G>A	GRCh37
NC_000012.10:g.97452235G>A	NCBI36
NG_021393.1:g.23754G>A , LRG_443:g.23754G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000556029.6:c.565+2488G>A MANE Select	ENSP00000450627.1:n.565+2488G>A
ENST00000261210.9:c.565+2488G>A	ENSP00000261210.5:n.565+2488G>A
ENST00000266732.8:c.2069G>A	ENSP00000266732.4:p.Arg690His
ENST00000343315.9:c.565+2488G>A	ENSP00000340251.5:n.565+2488G>A
ENST00000393053.6:c.565+2488G>A	ENSP00000376773.2:n.565+2488G>A
ENST00000552831.1:n.643+2488G>A
ENST00000556029.5:c.565+2488G>A	ENSP00000450627.1:n.565+2488G>A
ENST00000556678.1:c.286+2488G>A	ENSP00000451552.1:n.286+2488G>A
NM_001032283.2:c.565+2488G>A , LRG_443t1:c.565+2488G>A	NP_001027454.1:n.565+2488G>A
NM_001032284.2:c.565+2488G>A	NP_001027455.1:n.565+2488G>A
NM_001307975.1:c.565+2488G>A	NP_001294904.1:n.565+2488G>A
NM_003276.2:c.2069G>A , LRG_443t2:c.2069G>A	NP_003267.1:p.Arg690His
XM_005269132.2:c.565+2488G>A	XP_005269189.1:n.565+2488G>A
XM_005269132.4:c.565+2488G>A	XP_005269189.1:n.565+2488G>A
XM_017019914.2:c.1163G>A	XP_016875403.1:p.Arg388His
NM_001032283.3:c.565+2488G>A MANE Select	NP_001027454.1:n.565+2488G>A
NM_001032284.3:c.565+2488G>A	NP_001027455.1:n.565+2488G>A
NM_001307975.2:c.565+2488G>A	NP_001294904.1:n.565+2488G>A