Canonical Allele Identifier: CA368163817

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120669C>T (hg19) ; chr7:g.92491355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491355C>T , CM000669.2:g.92491355C>T	GRCh38
NC_000007.13:g.92120669C>T , CM000669.1:g.92120669C>T	GRCh37
NC_000007.12:g.91958605C>T	NCBI36
NG_008341.1:g.42177G>A
NG_008341.2:g.42177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3355G>A (PEX1) MANE Select	ENSP00000248633.4:p.Asp1119Asn
ENST00000248633.8:c.3355G>A (PEX1)	ENSP00000248633.4:p.Asp1119Asn
ENST00000428214.5:c.3184G>A (PEX1)	ENSP00000394413.1:p.Asp1062Asn
ENST00000438045.5:c.2389G>A (PEX1)	ENSP00000410438.1:p.Asp797Asn
ENST00000484913.5:n.3394G>A (PEX1)
ENST00000496420.5:n.4410G>A (PEX1)
NM_000466.2:c.3355G>A (PEX1)	NP_000457.1:p.Asp1119Asn
NM_001282677.1:c.3184G>A (PEX1)	NP_001269606.1:p.Asp1062Asn
NM_001282678.1:c.2731G>A (PEX1)	NP_001269607.1:p.Asp911Asn
XM_005250433.3:c.1606G>A (PEX1)	XP_005250490.1:p.Asp536Asn
XR_242246.3:n.3451G>A (PEX1)
XM_017012319.2:c.1606G>A (PEX1)	XP_016867808.1:p.Asp536Asn
XR_001744808.2:n.2382G>A (PEX1)
XR_001744842.2:n.2393C>T (GATAD1)
XR_001744843.2:n.2324C>T (GATAD1)
XR_002956472.1:n.2450C>T (GATAD1)
XR_002956473.1:n.2481C>T (GATAD1)
XR_002956474.1:n.2398C>T (GATAD1)
XR_242246.5:n.3402G>A (PEX1)
XR_927494.3:n.1175C>T (GATAD1)
XR_927500.3:n.1172C>T (GATAD1)
XR_927503.3:n.1106C>T (GATAD1)
NM_000466.3:c.3355G>A (PEX1) MANE Select	NP_000457.1:p.Asp1119Asn
NM_001282677.2:c.3184G>A (PEX1)	NP_001269606.1:p.Asp1062Asn
NM_001282678.2:c.2731G>A (PEX1)	NP_001269607.1:p.Asp911Asn