Canonical Allele Identifier: CA6478600

Gene: PYROXD1 RECQL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21470287A>G , CM000674.2:g.21470287A>G	GRCh38
NC_000012.11:g.21623221A>G , CM000674.1:g.21623221A>G	GRCh37
NC_000012.10:g.21514488A>G	NCBI36
NG_053196.1:g.37684A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002907.4:c.1857T>C (RECQL) MANE Select	NP_002898.2:p.Asn619=
NM_024854.5:c.*1533A>G (PYROXD1) MANE Select	NP_079130.2:n.*1533A>G
ENST00000240651.14:c.*1533A>G (PYROXD1) MANE Select	ENSP00000240651.9:n.*1533A>G
ENST00000444129.7:c.1857T>C (RECQL) MANE Select	ENSP00000416739.2:p.Asn619=
NM_001350912.1:c.*1533A>G (PYROXD1)	NP_001337841.1:n.*1533A>G
NM_001350912.2:c.*1533A>G (PYROXD1)	NP_001337841.1:n.*1533A>G
NM_001350913.1:c.*1533A>G (PYROXD1)	NP_001337842.1:n.*1533A>G
NM_001350913.2:c.*1533A>G (PYROXD1)	NP_001337842.1:n.*1533A>G
NM_002907.3:c.1857T>C (RECQL)	NP_002898.2:p.Asn619=
NM_024854.3:c.*1533A>G (PYROXD1)	NP_079130.2:n.*1533A>G
NM_024854.4:c.*1533A>G (PYROXD1)	NP_079130.2:n.*1533A>G
NM_032941.2:c.1857T>C (RECQL)	NP_116559.1:p.Asn619=
NM_032941.3:c.1857T>C (RECQL)	NP_116559.1:p.Asn619=
ENST00000240651.13:c.*1533A>G (PYROXD1)	ENSP00000240651.9:n.*1533A>G
ENST00000421138.6:c.1857T>C (RECQL)	ENSP00000395449.2:p.Asn619=
ENST00000444129.6:c.1857T>C (RECQL)	ENSP00000416739.2:p.Asn619=
ENST00000538582.5:c.*1533A>G (PYROXD1)	ENSP00000438505.1:n.*1533A>G
XM_005253461.3:c.1857T>C (RECQL)	XP_005253518.1:p.Asn619=
XM_005253462.3:c.1857T>C (RECQL)	XP_005253519.1:p.Asn619=
XM_005253462.5:c.1857T>C (RECQL)	XP_005253519.1:p.Asn619=
XM_005253463.2:c.1857T>C (RECQL)	XP_005253520.1:p.Asn619=
XM_005253463.4:c.1857T>C (RECQL)	XP_005253520.1:p.Asn619=
XM_005253464.2:c.1857T>C (RECQL)	XP_005253521.1:p.Asn619=
XM_005253464.4:c.1857T>C (RECQL)	XP_005253521.1:p.Asn619=
XM_006719133.2:c.1857T>C (RECQL)	XP_006719196.1:p.Asn619=
XM_011520811.1:c.1857T>C (RECQL)	XP_011519113.1:p.Asn619=
XR_242902.4:n.3142A>G (PYROXD1)