Canonical Allele Identifier: CA368163589

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120642G>C (hg19) ; chr7:g.92491328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491328G>C , CM000669.2:g.92491328G>C	GRCh38
NC_000007.13:g.92120642G>C , CM000669.1:g.92120642G>C	GRCh37
NC_000007.12:g.91958578G>C	NCBI36
NG_008341.1:g.42204C>G
NG_008341.2:g.42204C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3382C>G (PEX1) MANE Select	ENSP00000248633.4:p.Leu1128Val
ENST00000248633.8:c.3382C>G (PEX1)	ENSP00000248633.4:p.Leu1128Val
ENST00000428214.5:c.3211C>G (PEX1)	ENSP00000394413.1:p.Leu1071Val
ENST00000438045.5:c.2416C>G (PEX1)	ENSP00000410438.1:p.Leu806Val
ENST00000484913.5:n.3421C>G (PEX1)
ENST00000496420.5:n.4437C>G (PEX1)
NM_000466.2:c.3382C>G (PEX1)	NP_000457.1:p.Leu1128Val
NM_001282677.1:c.3211C>G (PEX1)	NP_001269606.1:p.Leu1071Val
NM_001282678.1:c.2758C>G (PEX1)	NP_001269607.1:p.Leu920Val
XM_005250433.3:c.1633C>G (PEX1)	XP_005250490.1:p.Leu545Val
XR_242246.3:n.3478C>G (PEX1)
XR_927497.1:n.1178G>C (GATAD1)
XM_017012319.2:c.1633C>G (PEX1)	XP_016867808.1:p.Leu545Val
XR_001744808.2:n.2409C>G (PEX1)
XR_001744842.2:n.2366G>C (GATAD1)
XR_001744843.2:n.2297G>C (GATAD1)
XR_002956472.1:n.2423G>C (GATAD1)
XR_002956473.1:n.2454G>C (GATAD1)
XR_002956474.1:n.2371G>C (GATAD1)
XR_242246.5:n.3429C>G (PEX1)
XR_927494.3:n.1148G>C (GATAD1)
XR_927500.3:n.1145G>C (GATAD1)
XR_927503.3:n.1079G>C (GATAD1)
NM_000466.3:c.3382C>G (PEX1) MANE Select	NP_000457.1:p.Leu1128Val
NM_001282677.2:c.3211C>G (PEX1)	NP_001269606.1:p.Leu1071Val
NM_001282678.2:c.2758C>G (PEX1)	NP_001269607.1:p.Leu920Val