Canonical Allele Identifier: CA368164438

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120751A>C (hg19) ; chr7:g.92491437A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491437A>C , CM000669.2:g.92491437A>C	GRCh38
NC_000007.13:g.92120751A>C , CM000669.1:g.92120751A>C	GRCh37
NC_000007.12:g.91958687A>C	NCBI36
NG_008341.1:g.42095T>G
NG_008341.2:g.42095T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3273T>G (PEX1) MANE Select	ENSP00000248633.4:p.Ser1091Arg
ENST00000248633.8:c.3273T>G (PEX1)	ENSP00000248633.4:p.Ser1091Arg
ENST00000428214.5:c.3102T>G (PEX1)	ENSP00000394413.1:p.Ser1034Arg
ENST00000438045.5:c.2307T>G (PEX1)	ENSP00000410438.1:p.Ser769Arg
ENST00000484913.5:n.3312T>G (PEX1)
ENST00000496420.5:n.4328T>G (PEX1)
NM_000466.2:c.3273T>G (PEX1)	NP_000457.1:p.Ser1091Arg
NM_001282677.1:c.3102T>G (PEX1)	NP_001269606.1:p.Ser1034Arg
NM_001282678.1:c.2649T>G (PEX1)	NP_001269607.1:p.Ser883Arg
XM_005250433.3:c.1524T>G (PEX1)	XP_005250490.1:p.Ser508Arg
XR_242246.3:n.3369T>G (PEX1)
XM_017012319.2:c.1524T>G (PEX1)	XP_016867808.1:p.Ser508Arg
XR_001744808.2:n.2300T>G (PEX1)
XR_001744842.2:n.2475A>C (GATAD1)
XR_001744843.2:n.2406A>C (GATAD1)
XR_002956472.1:n.2532A>C (GATAD1)
XR_002956473.1:n.2563A>C (GATAD1)
XR_002956474.1:n.2480A>C (GATAD1)
XR_242246.5:n.3320T>G (PEX1)
XR_927494.3:n.1257A>C (GATAD1)
XR_927500.3:n.1254A>C (GATAD1)
XR_927503.3:n.1188A>C (GATAD1)
NM_000466.3:c.3273T>G (PEX1) MANE Select	NP_000457.1:p.Ser1091Arg
NM_001282677.2:c.3102T>G (PEX1)	NP_001269606.1:p.Ser1034Arg
NM_001282678.2:c.2649T>G (PEX1)	NP_001269607.1:p.Ser883Arg