Canonical Allele Identifier: CA3650171

Gene: TPMT

Linked Data

• dbSNP Id: rs750823453
• ExAC: 6:18139172 C / A
• gnomAD v2: 6-18139172-C-A
• gnomAD v4: 6-18138941-C-A
• MyVariant Identifiers: chr6:g.18139172C>A (hg19) ; chr6:g.18139172_18139173delinsAA (hg19) ; chr6:g.18138941C>A (hg38) ; chr6:g.18138941_18138942delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18138941C>A , CM000668.2:g.18138941C>A	GRCh38
NC_000006.11:g.18139172C>A , CM000668.1:g.18139172C>A	GRCh37
NC_000006.10:g.18247151C>A	NCBI36
NG_012137.2:g.21203G>T
NG_012137.3:g.21203G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.494+22G>T MANE Select	ENSP00000312304.4:n.494+22G>T
ENST00000309983.4:c.494+22G>T	ENSP00000312304.4:n.494+22G>T
NM_000367.3:c.494+22G>T	NP_000358.1:n.494+22G>T
XM_011514839.1:c.494+22G>T	XP_011513141.1:n.494+22G>T
XM_011514840.1:c.425+22G>T	XP_011513142.1:n.425+22G>T
NM_000367.4:c.494+22G>T	NP_000358.1:n.494+22G>T
NM_001346817.1:c.494+22G>T	NP_001333746.1:n.494+22G>T
NM_001346818.1:c.494+22G>T	NP_001333747.1:n.494+22G>T
NM_000367.5:c.494+22G>T MANE Select	NP_000358.1:n.494+22G>T