Canonical Allele Identifier: CA238435

Gene: TMPO

Linked Data

• ClinVar Variation Id: 192133
• ClinVar RCV Id: RCV000172597 ; RCV000223911 ; RCV000578085 ; RCV000625188 ; RCV001081032 ; RCV000852682 ; RCV003937542
• dbSNP Id: rs141443652
• ExAC: 12:98927312 C / T
• gnomAD v2: 12-98927312-C-T
• gnomAD v3: 12-98533534-C-T
• gnomAD v4: 12-98533534-C-T
• MyVariant Identifiers: chr12:g.98927312C>T (hg19) ; chr12:g.98533534C>T (hg38)
• PubMed: PMID:23861362 ; PMID:24375709 ; PMID:28074886

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.98533534C>T , CM000674.2:g.98533534C>T	GRCh38
NC_000012.11:g.98927312C>T , CM000674.1:g.98927312C>T	GRCh37
NC_000012.10:g.97451443C>T	NCBI36
NG_021393.1:g.22962C>T , LRG_443:g.22962C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556029.6:c.565+1696C>T MANE Select	ENSP00000450627.1:n.565+1696C>T
ENST00000261210.9:c.565+1696C>T	ENSP00000261210.5:n.565+1696C>T
ENST00000266732.8:c.1277C>T	ENSP00000266732.4:p.Pro426Leu
ENST00000343315.9:c.565+1696C>T	ENSP00000340251.5:n.565+1696C>T
ENST00000393053.6:c.565+1696C>T	ENSP00000376773.2:n.565+1696C>T
ENST00000552831.1:n.643+1696C>T
ENST00000556029.5:c.565+1696C>T	ENSP00000450627.1:n.565+1696C>T
ENST00000556678.1:c.286+1696C>T	ENSP00000451552.1:n.286+1696C>T
NM_001032283.2:c.565+1696C>T , LRG_443t1:c.565+1696C>T	NP_001027454.1:n.565+1696C>T
NM_001032284.2:c.565+1696C>T	NP_001027455.1:n.565+1696C>T
NM_001307975.1:c.565+1696C>T	NP_001294904.1:n.565+1696C>T
NM_003276.2:c.1277C>T , LRG_443t2:c.1277C>T	NP_003267.1:p.Pro426Leu
XM_005269132.2:c.565+1696C>T	XP_005269189.1:n.565+1696C>T
XM_005269132.4:c.565+1696C>T	XP_005269189.1:n.565+1696C>T
XM_017019914.2:c.371C>T	XP_016875403.1:p.Pro124Leu
NM_001032283.3:c.565+1696C>T MANE Select	NP_001027454.1:n.565+1696C>T
NM_001032284.3:c.565+1696C>T	NP_001027455.1:n.565+1696C>T
NM_001307975.2:c.565+1696C>T	NP_001294904.1:n.565+1696C>T