Canonical Allele Identifier: CA456481513

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494386-T-C
• MyVariant Identifiers: chr7:g.92123700T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494386T>C , CM000669.2:g.92494386T>C	GRCh38
NC_000007.13:g.92123700T>C , CM000669.1:g.92123700T>C	GRCh37
NC_000007.12:g.91961636T>C	NCBI36
NG_008341.1:g.39146A>G
NG_008341.2:g.39146A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2937A>G (PEX1) MANE Select	ENSP00000248633.4:p.Val979=
ENST00000248633.8:c.2937A>G (PEX1)	ENSP00000248633.4:p.Val979=
ENST00000428214.5:c.2766A>G (PEX1)	ENSP00000394413.1:p.Val922=
ENST00000438045.5:c.1971A>G (PEX1)	ENSP00000410438.1:p.Val657=
ENST00000484913.5:n.2976A>G (PEX1)
ENST00000496420.5:n.2829A>G (PEX1)
NM_000466.2:c.2937A>G (PEX1)	NP_000457.1:p.Val979=
NM_001282677.1:c.2766A>G (PEX1)	NP_001269606.1:p.Val922=
NM_001282678.1:c.2313A>G (PEX1)	NP_001269607.1:p.Val771=
XM_005250433.3:c.1188A>G (PEX1)	XP_005250490.1:p.Val396=
XR_242246.3:n.3033A>G (PEX1)
XM_017012319.2:c.1188A>G (PEX1)	XP_016867808.1:p.Val396=
XR_001744808.2:n.1964A>G (PEX1)
XR_001744843.2:n.5355T>C (GATAD1)
XR_242246.5:n.2984A>G (PEX1)
XR_927494.3:n.4206T>C (GATAD1)
XR_927503.3:n.4137T>C (GATAD1)
NM_000466.3:c.2937A>G (PEX1) MANE Select	NP_000457.1:p.Val979=
NM_001282677.2:c.2766A>G (PEX1)	NP_001269606.1:p.Val922=
NM_001282678.2:c.2313A>G (PEX1)	NP_001269607.1:p.Val771=