Canonical Allele Identifier: CA10621765

Gene: TPMT

Linked Data

• ClinVar Variation Id: 356089
• ClinVar RCV Id: RCV000310587
• dbSNP Id: rs886061256
• MyVariant Identifiers: chr6:g.18129118_18129121dupTTTT (hg19) ; chr6:g.18129117_18129118insTTTT (hg19) ; chr6:g.18128887_18128890dupTTTT (hg38) ; chr6:g.18128886_18128887insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18128890_18128893dup , CM000668.2:g.18128890_18128893dup	GRCh38
NC_000006.11:g.18129121_18129124dup , CM000668.1:g.18129121_18129124dup	GRCh37
NC_000006.10:g.18237100_18237103dup	NCBI36
NG_012137.2:g.31254_31257dup
NG_012137.3:g.31254_31257dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.*1778_*1781dup MANE Select	ENSP00000312304.4:n.*1778_*1781dup
ENST00000309983.4:c.*1778_*1781dup	ENSP00000312304.4:n.*1778_*1781dup
NM_000367.3:c.*1778_*1781dup	NP_000358.1:n.*1778_*1781dup
XM_011514839.1:c.*1778_*1781dup	XP_011513141.1:n.*1778_*1781dup
XM_011514840.1:c.*1778_*1781dup	XP_011513142.1:n.*1778_*1781dup
NM_000367.4:c.*1778_*1781dup	NP_000358.1:n.*1778_*1781dup
NM_001346817.1:c.*1778_*1781dup	NP_001333746.1:n.*1778_*1781dup
NM_001346818.1:c.*1778_*1781dup	NP_001333747.1:n.*1778_*1781dup
NM_000367.5:c.*1778_*1781dup MANE Select	NP_000358.1:n.*1778_*1781dup