Canonical Allele Identifier: CA565556115

Gene: TPMT

Linked Data

• dbSNP Id: rs1477679329
• gnomAD v2: 6-18139033-CT-C
• gnomAD v3: 6-18138802-CT-C
• gnomAD v4: 6-18138802-CT-C
• MyVariant Identifiers: chr6:g.18139034del (hg19) ; chr6:g.18138803del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18138807del , CM000668.2:g.18138807del	GRCh38
NC_000006.11:g.18139038del , CM000668.1:g.18139038del	GRCh37
NC_000006.10:g.18247017del	NCBI36
NG_012137.2:g.21341del
NG_012137.3:g.21341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.494+160del MANE Select	ENSP00000312304.4:n.494+160del
ENST00000309983.4:c.494+160del	ENSP00000312304.4:n.494+160del
NM_000367.3:c.494+160del	NP_000358.1:n.494+160del
XM_011514839.1:c.494+160del	XP_011513141.1:n.494+160del
XM_011514840.1:c.425+160del	XP_011513142.1:n.425+160del
NM_000367.4:c.494+160del	NP_000358.1:n.494+160del
NM_001346817.1:c.494+160del	NP_001333746.1:n.494+160del
NM_001346818.1:c.494+160del	NP_001333747.1:n.494+160del
NM_000367.5:c.494+160del MANE Select	NP_000358.1:n.494+160del