Canonical Allele Identifier: CA368164463

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120752C>G (hg19) ; chr7:g.92491438C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491438C>G , CM000669.2:g.92491438C>G	GRCh38
NC_000007.13:g.92120752C>G , CM000669.1:g.92120752C>G	GRCh37
NC_000007.12:g.91958688C>G	NCBI36
NG_008341.1:g.42094G>C
NG_008341.2:g.42094G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3272G>C (PEX1) MANE Select	ENSP00000248633.4:p.Ser1091Thr
ENST00000248633.8:c.3272G>C (PEX1)	ENSP00000248633.4:p.Ser1091Thr
ENST00000428214.5:c.3101G>C (PEX1)	ENSP00000394413.1:p.Ser1034Thr
ENST00000438045.5:c.2306G>C (PEX1)	ENSP00000410438.1:p.Ser769Thr
ENST00000484913.5:n.3311G>C (PEX1)
ENST00000496420.5:n.4327G>C (PEX1)
NM_000466.2:c.3272G>C (PEX1)	NP_000457.1:p.Ser1091Thr
NM_001282677.1:c.3101G>C (PEX1)	NP_001269606.1:p.Ser1034Thr
NM_001282678.1:c.2648G>C (PEX1)	NP_001269607.1:p.Ser883Thr
XM_005250433.3:c.1523G>C (PEX1)	XP_005250490.1:p.Ser508Thr
XR_242246.3:n.3368G>C (PEX1)
XM_017012319.2:c.1523G>C (PEX1)	XP_016867808.1:p.Ser508Thr
XR_001744808.2:n.2299G>C (PEX1)
XR_001744842.2:n.2476C>G (GATAD1)
XR_001744843.2:n.2407C>G (GATAD1)
XR_002956472.1:n.2533C>G (GATAD1)
XR_002956473.1:n.2564C>G (GATAD1)
XR_002956474.1:n.2481C>G (GATAD1)
XR_242246.5:n.3319G>C (PEX1)
XR_927494.3:n.1258C>G (GATAD1)
XR_927500.3:n.1255C>G (GATAD1)
XR_927503.3:n.1189C>G (GATAD1)
NM_000466.3:c.3272G>C (PEX1) MANE Select	NP_000457.1:p.Ser1091Thr
NM_001282677.2:c.3101G>C (PEX1)	NP_001269606.1:p.Ser1034Thr
NM_001282678.2:c.2648G>C (PEX1)	NP_001269607.1:p.Ser883Thr