Canonical Allele Identifier: CA368164998

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120816C>A (hg19) ; chr7:g.92491502C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491502C>A , CM000669.2:g.92491502C>A	GRCh38
NC_000007.13:g.92120816C>A , CM000669.1:g.92120816C>A	GRCh37
NC_000007.12:g.91958752C>A	NCBI36
NG_008341.1:g.42030G>T
NG_008341.2:g.42030G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208G>T (PEX1) MANE Select	ENSP00000248633.4:p.Asp1070Tyr
ENST00000248633.8:c.3208G>T (PEX1)	ENSP00000248633.4:p.Asp1070Tyr
ENST00000428214.5:c.3037G>T (PEX1)	ENSP00000394413.1:p.Asp1013Tyr
ENST00000438045.5:c.2242G>T (PEX1)	ENSP00000410438.1:p.Asp748Tyr
ENST00000484913.5:n.3247G>T (PEX1)
ENST00000496420.5:n.4263G>T (PEX1)
NM_000466.2:c.3208G>T (PEX1)	NP_000457.1:p.Asp1070Tyr
NM_001282677.1:c.3037G>T (PEX1)	NP_001269606.1:p.Asp1013Tyr
NM_001282678.1:c.2584G>T (PEX1)	NP_001269607.1:p.Asp862Tyr
XM_005250433.3:c.1459G>T (PEX1)	XP_005250490.1:p.Asp487Tyr
XR_242246.3:n.3304G>T (PEX1)
XM_017012319.2:c.1459G>T (PEX1)	XP_016867808.1:p.Asp487Tyr
XR_001744808.2:n.2235G>T (PEX1)
XR_001744842.2:n.2540C>A (GATAD1)
XR_001744843.2:n.2471C>A (GATAD1)
XR_002956472.1:n.2597C>A (GATAD1)
XR_002956473.1:n.2628C>A (GATAD1)
XR_002956474.1:n.2545C>A (GATAD1)
XR_242246.5:n.3255G>T (PEX1)
XR_927494.3:n.1322C>A (GATAD1)
XR_927500.3:n.1319C>A (GATAD1)
XR_927503.3:n.1253C>A (GATAD1)
NM_000466.3:c.3208G>T (PEX1) MANE Select	NP_000457.1:p.Asp1070Tyr
NM_001282677.2:c.3037G>T (PEX1)	NP_001269606.1:p.Asp1013Tyr
NM_001282678.2:c.2584G>T (PEX1)	NP_001269607.1:p.Asp862Tyr