Canonical Allele Identifier: CA4340983

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs748176863
• ExAC: 7:92123838 C / T
• gnomAD v2: 7-92123838-C-T
• gnomAD v3: 7-92494524-C-T
• gnomAD v4: 7-92494524-C-T
• MyVariant Identifiers: chr7:g.92123838C>T (hg19) ; chr7:g.92494524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494524C>T , CM000669.2:g.92494524C>T	GRCh38
NC_000007.13:g.92123838C>T , CM000669.1:g.92123838C>T	GRCh37
NC_000007.12:g.91961774C>T	NCBI36
NG_008341.1:g.39008G>A
NG_008341.2:g.39008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2889G>A (PEX1) MANE Select	ENSP00000248633.4:p.Gln963=
ENST00000248633.8:c.2889G>A (PEX1)	ENSP00000248633.4:p.Gln963=
ENST00000428214.5:c.2718G>A (PEX1)	ENSP00000394413.1:p.Gln906=
ENST00000438045.5:c.1923G>A (PEX1)	ENSP00000410438.1:p.Gln641=
ENST00000484913.5:n.2928G>A (PEX1)
ENST00000496420.5:n.2781G>A (PEX1)
NM_000466.2:c.2889G>A (PEX1)	NP_000457.1:p.Gln963=
NM_001282677.1:c.2718G>A (PEX1)	NP_001269606.1:p.Gln906=
NM_001282678.1:c.2265G>A (PEX1)	NP_001269607.1:p.Gln755=
XM_005250433.3:c.1140G>A (PEX1)	XP_005250490.1:p.Gln380=
XR_242246.3:n.2985G>A (PEX1)
XM_017012319.2:c.1140G>A (PEX1)	XP_016867808.1:p.Gln380=
XR_001744808.2:n.1916G>A (PEX1)
XR_001744843.2:n.5493C>T (GATAD1)
XR_242246.5:n.2936G>A (PEX1)
XR_927494.3:n.4344C>T (GATAD1)
XR_927503.3:n.4275C>T (GATAD1)
NM_000466.3:c.2889G>A (PEX1) MANE Select	NP_000457.1:p.Gln963=
NM_001282677.2:c.2718G>A (PEX1)	NP_001269606.1:p.Gln906=
NM_001282678.2:c.2265G>A (PEX1)	NP_001269607.1:p.Gln755=