Canonical Allele Identifier: CA384301880

Gene: PYROXD1

Linked Data

• ClinVar Variation Id: 1481184
• ClinVar RCV Id: RCV001988252
• dbSNP Id: rs2137256805
• gnomAD v4: 12-21449612-T-C
• MyVariant Identifiers: chr12:g.21602546T>C (hg19) ; chr12:g.21449612T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449612T>C , CM000674.2:g.21449612T>C	GRCh38
NC_000012.11:g.21602546T>C , CM000674.1:g.21602546T>C	GRCh37
NC_000012.10:g.21493813T>C	NCBI36
NG_053196.1:g.17009T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.335T>C MANE Select	ENSP00000240651.9:p.Leu112Pro
ENST00000240651.13:c.335T>C	ENSP00000240651.9:p.Leu112Pro
ENST00000375266.8:c.*261T>C	ENSP00000364415.4:n.*261T>C
ENST00000538582.5:c.122T>C	ENSP00000438505.1:p.Leu41Pro
ENST00000543476.5:c.335T>C	ENSP00000440192.1:p.Leu112Pro
ENST00000544970.5:c.335T>C	ENSP00000439106.1:p.Leu112Pro
NM_024854.3:c.335T>C	NP_079130.2:p.Leu112Pro
XM_006719153.2:c.335T>C	XP_006719216.1:p.Leu112Pro
XR_242902.3:n.462T>C
NM_001350912.1:c.122T>C	NP_001337841.1:p.Leu41Pro
NM_001350913.1:c.-369T>C	NP_001337842.1:n.-369T>C
NM_024854.4:c.335T>C	NP_079130.2:p.Leu112Pro
XM_006719153.3:c.335T>C	XP_006719216.1:p.Leu112Pro
XR_242902.4:n.436T>C
NM_024854.5:c.335T>C MANE Select	NP_079130.2:p.Leu112Pro
NM_001350913.2:c.-369T>C	NP_001337842.1:n.-369T>C
NM_001350912.2:c.122T>C	NP_001337841.1:p.Leu41Pro