Canonical Allele Identifier: CA368168521

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123857G>C (hg19) ; chr7:g.92494543G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494543G>C , CM000669.2:g.92494543G>C	GRCh38
NC_000007.13:g.92123857G>C , CM000669.1:g.92123857G>C	GRCh37
NC_000007.12:g.91961793G>C	NCBI36
NG_008341.1:g.38989C>G
NG_008341.2:g.38989C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2870C>G (PEX1) MANE Select	ENSP00000248633.4:p.Thr957Arg
ENST00000248633.8:c.2870C>G (PEX1)	ENSP00000248633.4:p.Thr957Arg
ENST00000428214.5:c.2699C>G (PEX1)	ENSP00000394413.1:p.Thr900Arg
ENST00000438045.5:c.1904C>G (PEX1)	ENSP00000410438.1:p.Thr635Arg
ENST00000484913.5:n.2909C>G (PEX1)
ENST00000496420.5:n.2762C>G (PEX1)
NM_000466.2:c.2870C>G (PEX1)	NP_000457.1:p.Thr957Arg
NM_001282677.1:c.2699C>G (PEX1)	NP_001269606.1:p.Thr900Arg
NM_001282678.1:c.2246C>G (PEX1)	NP_001269607.1:p.Thr749Arg
XM_005250433.3:c.1121C>G (PEX1)	XP_005250490.1:p.Thr374Arg
XR_242246.3:n.2966C>G (PEX1)
XM_017012319.2:c.1121C>G (PEX1)	XP_016867808.1:p.Thr374Arg
XR_001744808.2:n.1897C>G (PEX1)
XR_001744843.2:n.5512G>C (GATAD1)
XR_242246.5:n.2917C>G (PEX1)
XR_927494.3:n.4363G>C (GATAD1)
XR_927503.3:n.4294G>C (GATAD1)
NM_000466.3:c.2870C>G (PEX1) MANE Select	NP_000457.1:p.Thr957Arg
NM_001282677.2:c.2699C>G (PEX1)	NP_001269606.1:p.Thr900Arg
NM_001282678.2:c.2246C>G (PEX1)	NP_001269607.1:p.Thr749Arg