Canonical Allele Identifier: CA368168309

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123824A>C (hg19) ; chr7:g.92494510A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494510A>C , CM000669.2:g.92494510A>C	GRCh38
NC_000007.13:g.92123824A>C , CM000669.1:g.92123824A>C	GRCh37
NC_000007.12:g.91961760A>C	NCBI36
NG_008341.1:g.39022T>G
NG_008341.2:g.39022T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2903T>G (PEX1) MANE Select	ENSP00000248633.4:p.Leu968Trp
ENST00000248633.8:c.2903T>G (PEX1)	ENSP00000248633.4:p.Leu968Trp
ENST00000428214.5:c.2732T>G (PEX1)	ENSP00000394413.1:p.Leu911Trp
ENST00000438045.5:c.1937T>G (PEX1)	ENSP00000410438.1:p.Leu646Trp
ENST00000484913.5:n.2942T>G (PEX1)
ENST00000496420.5:n.2795T>G (PEX1)
NM_000466.2:c.2903T>G (PEX1)	NP_000457.1:p.Leu968Trp
NM_001282677.1:c.2732T>G (PEX1)	NP_001269606.1:p.Leu911Trp
NM_001282678.1:c.2279T>G (PEX1)	NP_001269607.1:p.Leu760Trp
XM_005250433.3:c.1154T>G (PEX1)	XP_005250490.1:p.Leu385Trp
XR_242246.3:n.2999T>G (PEX1)
XM_017012319.2:c.1154T>G (PEX1)	XP_016867808.1:p.Leu385Trp
XR_001744808.2:n.1930T>G (PEX1)
XR_001744843.2:n.5479A>C (GATAD1)
XR_242246.5:n.2950T>G (PEX1)
XR_927494.3:n.4330A>C (GATAD1)
XR_927503.3:n.4261A>C (GATAD1)
NM_000466.3:c.2903T>G (PEX1) MANE Select	NP_000457.1:p.Leu968Trp
NM_001282677.2:c.2732T>G (PEX1)	NP_001269606.1:p.Leu911Trp
NM_001282678.2:c.2279T>G (PEX1)	NP_001269607.1:p.Leu760Trp