Canonical Allele Identifier: CA362832488

Gene: TPMT

Linked Data

• MyVariant Identifiers: chr6:g.18130980C>A (hg19) ; chr6:g.18130749C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18130749C>A , CM000668.2:g.18130749C>A	GRCh38
NC_000006.11:g.18130980C>A , CM000668.1:g.18130980C>A	GRCh37
NC_000006.10:g.18238959C>A	NCBI36
NG_012137.2:g.29395G>T
NG_012137.3:g.29395G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309983.5:c.657G>T MANE Select	ENSP00000312304.4:p.Lys219Asn
ENST00000309983.4:c.657G>T	ENSP00000312304.4:p.Lys219Asn
NM_000367.3:c.657G>T	NP_000358.1:p.Lys219Asn
XM_011514839.1:c.612G>T	XP_011513141.1:p.Lys204Asn
XM_011514840.1:c.588G>T	XP_011513142.1:p.Lys196Asn
NM_000367.4:c.657G>T	NP_000358.1:p.Lys219Asn
NM_001346817.1:c.657G>T	NP_001333746.1:p.Lys219Asn
NM_001346818.1:c.612G>T	NP_001333747.1:p.Lys204Asn
NM_000367.5:c.657G>T MANE Select	NP_000358.1:p.Lys219Asn