Canonical Allele Identifier: CA456623875

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120640G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491326G>C , CM000669.2:g.92491326G>C	GRCh38
NC_000007.13:g.92120640G>C , CM000669.1:g.92120640G>C	GRCh37
NC_000007.12:g.91958576G>C	NCBI36
NG_008341.1:g.42206C>G
NG_008341.2:g.42206C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3384C>G (PEX1) MANE Select	ENSP00000248633.4:p.Leu1128=
ENST00000248633.8:c.3384C>G (PEX1)	ENSP00000248633.4:p.Leu1128=
ENST00000428214.5:c.3213C>G (PEX1)	ENSP00000394413.1:p.Leu1071=
ENST00000438045.5:c.2418C>G (PEX1)	ENSP00000410438.1:p.Leu806=
ENST00000484913.5:n.3423C>G (PEX1)
ENST00000496420.5:n.4439C>G (PEX1)
NM_000466.2:c.3384C>G (PEX1)	NP_000457.1:p.Leu1128=
NM_001282677.1:c.3213C>G (PEX1)	NP_001269606.1:p.Leu1071=
NM_001282678.1:c.2760C>G (PEX1)	NP_001269607.1:p.Leu920=
XM_005250433.3:c.1635C>G (PEX1)	XP_005250490.1:p.Leu545=
XR_242246.3:n.3480C>G (PEX1)
XR_927497.1:n.1176G>C (GATAD1)
XM_017012319.2:c.1635C>G (PEX1)	XP_016867808.1:p.Leu545=
XR_001744808.2:n.2411C>G (PEX1)
XR_001744842.2:n.2364G>C (GATAD1)
XR_001744843.2:n.2295G>C (GATAD1)
XR_002956472.1:n.2421G>C (GATAD1)
XR_002956473.1:n.2452G>C (GATAD1)
XR_002956474.1:n.2369G>C (GATAD1)
XR_242246.5:n.3431C>G (PEX1)
XR_927494.3:n.1146G>C (GATAD1)
XR_927500.3:n.1143G>C (GATAD1)
XR_927503.3:n.1077G>C (GATAD1)
NM_000466.3:c.3384C>G (PEX1) MANE Select	NP_000457.1:p.Leu1128=
NM_001282677.2:c.3213C>G (PEX1)	NP_001269606.1:p.Leu1071=
NM_001282678.2:c.2760C>G (PEX1)	NP_001269607.1:p.Leu920=