Canonical Allele Identifier: CA456624025

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120682G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491368G>C , CM000669.2:g.92491368G>C	GRCh38
NC_000007.13:g.92120682G>C , CM000669.1:g.92120682G>C	GRCh37
NC_000007.12:g.91958618G>C	NCBI36
NG_008341.1:g.42164C>G
NG_008341.2:g.42164C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3342C>G (PEX1) MANE Select	ENSP00000248633.4:p.Ser1114=
ENST00000248633.8:c.3342C>G (PEX1)	ENSP00000248633.4:p.Ser1114=
ENST00000428214.5:c.3171C>G (PEX1)	ENSP00000394413.1:p.Ser1057=
ENST00000438045.5:c.2376C>G (PEX1)	ENSP00000410438.1:p.Ser792=
ENST00000484913.5:n.3381C>G (PEX1)
ENST00000496420.5:n.4397C>G (PEX1)
NM_000466.2:c.3342C>G (PEX1)	NP_000457.1:p.Ser1114=
NM_001282677.1:c.3171C>G (PEX1)	NP_001269606.1:p.Ser1057=
NM_001282678.1:c.2718C>G (PEX1)	NP_001269607.1:p.Ser906=
XM_005250433.3:c.1593C>G (PEX1)	XP_005250490.1:p.Ser531=
XR_242246.3:n.3438C>G (PEX1)
XM_017012319.2:c.1593C>G (PEX1)	XP_016867808.1:p.Ser531=
XR_001744808.2:n.2369C>G (PEX1)
XR_001744842.2:n.2406G>C (GATAD1)
XR_001744843.2:n.2337G>C (GATAD1)
XR_002956472.1:n.2463G>C (GATAD1)
XR_002956473.1:n.2494G>C (GATAD1)
XR_002956474.1:n.2411G>C (GATAD1)
XR_242246.5:n.3389C>G (PEX1)
XR_927494.3:n.1188G>C (GATAD1)
XR_927500.3:n.1185G>C (GATAD1)
XR_927503.3:n.1119G>C (GATAD1)
NM_000466.3:c.3342C>G (PEX1) MANE Select	NP_000457.1:p.Ser1114=
NM_001282677.2:c.3171C>G (PEX1)	NP_001269606.1:p.Ser1057=
NM_001282678.2:c.2718C>G (PEX1)	NP_001269607.1:p.Ser906=