Canonical Allele Identifier: CA368164629

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120771C>G (hg19) ; chr7:g.92491457C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491457C>G , CM000669.2:g.92491457C>G	GRCh38
NC_000007.13:g.92120771C>G , CM000669.1:g.92120771C>G	GRCh37
NC_000007.12:g.91958707C>G	NCBI36
NG_008341.1:g.42075G>C
NG_008341.2:g.42075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3253G>C (PEX1) MANE Select	ENSP00000248633.4:p.Val1085Leu
ENST00000248633.8:c.3253G>C (PEX1)	ENSP00000248633.4:p.Val1085Leu
ENST00000428214.5:c.3082G>C (PEX1)	ENSP00000394413.1:p.Val1028Leu
ENST00000438045.5:c.2287G>C (PEX1)	ENSP00000410438.1:p.Val763Leu
ENST00000484913.5:n.3292G>C (PEX1)
ENST00000496420.5:n.4308G>C (PEX1)
NM_000466.2:c.3253G>C (PEX1)	NP_000457.1:p.Val1085Leu
NM_001282677.1:c.3082G>C (PEX1)	NP_001269606.1:p.Val1028Leu
NM_001282678.1:c.2629G>C (PEX1)	NP_001269607.1:p.Val877Leu
XM_005250433.3:c.1504G>C (PEX1)	XP_005250490.1:p.Val502Leu
XR_242246.3:n.3349G>C (PEX1)
XM_017012319.2:c.1504G>C (PEX1)	XP_016867808.1:p.Val502Leu
XR_001744808.2:n.2280G>C (PEX1)
XR_001744842.2:n.2495C>G (GATAD1)
XR_001744843.2:n.2426C>G (GATAD1)
XR_002956472.1:n.2552C>G (GATAD1)
XR_002956473.1:n.2583C>G (GATAD1)
XR_002956474.1:n.2500C>G (GATAD1)
XR_242246.5:n.3300G>C (PEX1)
XR_927494.3:n.1277C>G (GATAD1)
XR_927500.3:n.1274C>G (GATAD1)
XR_927503.3:n.1208C>G (GATAD1)
NM_000466.3:c.3253G>C (PEX1) MANE Select	NP_000457.1:p.Val1085Leu
NM_001282677.2:c.3082G>C (PEX1)	NP_001269606.1:p.Val1028Leu
NM_001282678.2:c.2629G>C (PEX1)	NP_001269607.1:p.Val877Leu