Canonical Allele Identifier: CA134966176

Gene: TPMT

Linked Data

• dbSNP Id: rs986244284
• gnomAD v2: 6-18139711-G-C
• MyVariant Identifiers: chr6:g.18139711G>C (hg19) ; chr6:g.18139480G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18139480G>C , CM000668.2:g.18139480G>C	GRCh38
NC_000006.11:g.18139711G>C , CM000668.1:g.18139711G>C	GRCh37
NC_000006.10:g.18247690G>C	NCBI36
NG_012137.2:g.20664C>G
NG_012137.3:g.20664C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.419+185C>G MANE Select	ENSP00000312304.4:n.419+185C>G
ENST00000309983.4:c.419+185C>G	ENSP00000312304.4:n.419+185C>G
NM_000367.3:c.419+185C>G	NP_000358.1:n.419+185C>G
XM_011514839.1:c.419+185C>G	XP_011513141.1:n.419+185C>G
XM_011514840.1:c.350+185C>G	XP_011513142.1:n.350+185C>G
NM_000367.4:c.419+185C>G	NP_000358.1:n.419+185C>G
NM_001346817.1:c.419+185C>G	NP_001333746.1:n.419+185C>G
NM_001346818.1:c.419+185C>G	NP_001333747.1:n.419+185C>G
NM_000367.5:c.419+185C>G MANE Select	NP_000358.1:n.419+185C>G