Canonical Allele Identifier: CA478956744

Gene: PYROXD1

Linked Data

• COSMIC: COSM4040796
• MyVariant Identifiers: chr12:g.21602535G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449601G>A , CM000674.2:g.21449601G>A	GRCh38
NC_000012.11:g.21602535G>A , CM000674.1:g.21602535G>A	GRCh37
NC_000012.10:g.21493802G>A	NCBI36
NG_053196.1:g.16998G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.324G>A MANE Select	ENSP00000240651.9:p.Lys108=
ENST00000240651.13:c.324G>A	ENSP00000240651.9:p.Lys108=
ENST00000375266.8:c.*250G>A	ENSP00000364415.4:n.*250G>A
ENST00000538582.5:c.111G>A	ENSP00000438505.1:p.Lys37=
ENST00000543476.5:c.324G>A	ENSP00000440192.1:p.Lys108=
ENST00000544970.5:c.324G>A	ENSP00000439106.1:p.Lys108=
NM_024854.3:c.324G>A	NP_079130.2:p.Lys108=
XM_006719153.2:c.324G>A	XP_006719216.1:p.Lys108=
XR_242902.3:n.451G>A
NM_001350912.1:c.111G>A	NP_001337841.1:p.Lys37=
NM_001350913.1:c.-380G>A	NP_001337842.1:n.-380G>A
NM_024854.4:c.324G>A	NP_079130.2:p.Lys108=
XM_006719153.3:c.324G>A	XP_006719216.1:p.Lys108=
XR_242902.4:n.425G>A
NM_024854.5:c.324G>A MANE Select	NP_079130.2:p.Lys108=
NM_001350913.2:c.-380G>A	NP_001337842.1:n.-380G>A
NM_001350912.2:c.111G>A	NP_001337841.1:p.Lys37=