Canonical Allele Identifier: CA362832070

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18130902C>A (hg19) ; chr6:g.18130671C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130671C>A , CM000668.2:g.18130671C>A	GRCh38
NC_000006.11:g.18130902C>A , CM000668.1:g.18130902C>A	GRCh37
NC_000006.10:g.18238881C>A	NCBI36
NG_012137.2:g.29473G>T
NG_012137.3:g.29473G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309983.5:c.735G>T MANE Select	ENSP00000312304.4:p.Lys245Asn
ENST00000309983.4:c.735G>T	ENSP00000312304.4:p.Lys245Asn
NM_000367.3:c.735G>T	NP_000358.1:p.Lys245Asn
XM_011514839.1:c.690G>T	XP_011513141.1:p.Lys230Asn
XM_011514840.1:c.666G>T	XP_011513142.1:p.Lys222Asn
NM_000367.4:c.735G>T	NP_000358.1:p.Lys245Asn
NM_001346817.1:c.735G>T	NP_001333746.1:p.Lys245Asn
NM_001346818.1:c.690G>T	NP_001333747.1:p.Lys230Asn
NM_000367.5:c.735G>T MANE Select	NP_000358.1:p.Lys245Asn