Canonical Allele Identifier: CA368164953

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120807A>G (hg19) ; chr7:g.92491493A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491493A>G , CM000669.2:g.92491493A>G	GRCh38
NC_000007.13:g.92120807A>G , CM000669.1:g.92120807A>G	GRCh37
NC_000007.12:g.91958743A>G	NCBI36
NG_008341.1:g.42039T>C
NG_008341.2:g.42039T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3217T>C (PEX1) MANE Select	ENSP00000248633.4:p.Ser1073Pro
ENST00000248633.8:c.3217T>C (PEX1)	ENSP00000248633.4:p.Ser1073Pro
ENST00000428214.5:c.3046T>C (PEX1)	ENSP00000394413.1:p.Ser1016Pro
ENST00000438045.5:c.2251T>C (PEX1)	ENSP00000410438.1:p.Ser751Pro
ENST00000484913.5:n.3256T>C (PEX1)
ENST00000496420.5:n.4272T>C (PEX1)
NM_000466.2:c.3217T>C (PEX1)	NP_000457.1:p.Ser1073Pro
NM_001282677.1:c.3046T>C (PEX1)	NP_001269606.1:p.Ser1016Pro
NM_001282678.1:c.2593T>C (PEX1)	NP_001269607.1:p.Ser865Pro
XM_005250433.3:c.1468T>C (PEX1)	XP_005250490.1:p.Ser490Pro
XR_242246.3:n.3313T>C (PEX1)
XM_017012319.2:c.1468T>C (PEX1)	XP_016867808.1:p.Ser490Pro
XR_001744808.2:n.2244T>C (PEX1)
XR_001744842.2:n.2531A>G (GATAD1)
XR_001744843.2:n.2462A>G (GATAD1)
XR_002956472.1:n.2588A>G (GATAD1)
XR_002956473.1:n.2619A>G (GATAD1)
XR_002956474.1:n.2536A>G (GATAD1)
XR_242246.5:n.3264T>C (PEX1)
XR_927494.3:n.1313A>G (GATAD1)
XR_927500.3:n.1310A>G (GATAD1)
XR_927503.3:n.1244A>G (GATAD1)
NM_000466.3:c.3217T>C (PEX1) MANE Select	NP_000457.1:p.Ser1073Pro
NM_001282677.2:c.3046T>C (PEX1)	NP_001269606.1:p.Ser1016Pro
NM_001282678.2:c.2593T>C (PEX1)	NP_001269607.1:p.Ser865Pro