Canonical Allele Identifier: CA368164918

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120798C>G (hg19) ; chr7:g.92491484C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491484C>G , CM000669.2:g.92491484C>G	GRCh38
NC_000007.13:g.92120798C>G , CM000669.1:g.92120798C>G	GRCh37
NC_000007.12:g.91958734C>G	NCBI36
NG_008341.1:g.42048G>C
NG_008341.2:g.42048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3226G>C (PEX1) MANE Select	ENSP00000248633.4:p.Asp1076His
ENST00000248633.8:c.3226G>C (PEX1)	ENSP00000248633.4:p.Asp1076His
ENST00000428214.5:c.3055G>C (PEX1)	ENSP00000394413.1:p.Asp1019His
ENST00000438045.5:c.2260G>C (PEX1)	ENSP00000410438.1:p.Asp754His
ENST00000484913.5:n.3265G>C (PEX1)
ENST00000496420.5:n.4281G>C (PEX1)
NM_000466.2:c.3226G>C (PEX1)	NP_000457.1:p.Asp1076His
NM_001282677.1:c.3055G>C (PEX1)	NP_001269606.1:p.Asp1019His
NM_001282678.1:c.2602G>C (PEX1)	NP_001269607.1:p.Asp868His
XM_005250433.3:c.1477G>C (PEX1)	XP_005250490.1:p.Asp493His
XR_242246.3:n.3322G>C (PEX1)
XM_017012319.2:c.1477G>C (PEX1)	XP_016867808.1:p.Asp493His
XR_001744808.2:n.2253G>C (PEX1)
XR_001744842.2:n.2522C>G (GATAD1)
XR_001744843.2:n.2453C>G (GATAD1)
XR_002956472.1:n.2579C>G (GATAD1)
XR_002956473.1:n.2610C>G (GATAD1)
XR_002956474.1:n.2527C>G (GATAD1)
XR_242246.5:n.3273G>C (PEX1)
XR_927494.3:n.1304C>G (GATAD1)
XR_927500.3:n.1301C>G (GATAD1)
XR_927503.3:n.1235C>G (GATAD1)
NM_000466.3:c.3226G>C (PEX1) MANE Select	NP_000457.1:p.Asp1076His
NM_001282677.2:c.3055G>C (PEX1)	NP_001269606.1:p.Asp1019His
NM_001282678.2:c.2602G>C (PEX1)	NP_001269607.1:p.Asp868His