Canonical Allele Identifier: CA368163554

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120637G>C (hg19) ; chr7:g.92491323G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491323G>C , CM000669.2:g.92491323G>C	GRCh38
NC_000007.13:g.92120637G>C , CM000669.1:g.92120637G>C	GRCh37
NC_000007.12:g.91958573G>C	NCBI36
NG_008341.1:g.42209C>G
NG_008341.2:g.42209C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3387C>G (PEX1) MANE Select	ENSP00000248633.4:p.Tyr1129Ter
ENST00000248633.8:c.3387C>G (PEX1)	ENSP00000248633.4:p.Tyr1129Ter
ENST00000428214.5:c.3216C>G (PEX1)	ENSP00000394413.1:p.Tyr1072Ter
ENST00000438045.5:c.2421C>G (PEX1)	ENSP00000410438.1:p.Tyr807Ter
ENST00000484913.5:n.3426C>G (PEX1)
ENST00000496420.5:n.4442C>G (PEX1)
NM_000466.2:c.3387C>G (PEX1)	NP_000457.1:p.Tyr1129Ter
NM_001282677.1:c.3216C>G (PEX1)	NP_001269606.1:p.Tyr1072Ter
NM_001282678.1:c.2763C>G (PEX1)	NP_001269607.1:p.Tyr921Ter
XM_005250433.3:c.1638C>G (PEX1)	XP_005250490.1:p.Tyr546Ter
XR_242246.3:n.3483C>G (PEX1)
XR_927494.1:n.1116G>C (GATAD1)
XR_927496.1:n.1121G>C (GATAD1)
XR_927497.1:n.1173G>C (GATAD1)
XR_927500.1:n.1113G>C (GATAD1)
XR_927503.1:n.1047G>C (GATAD1)
XM_017012319.2:c.1638C>G (PEX1)	XP_016867808.1:p.Tyr546Ter
XR_001744808.2:n.2414C>G (PEX1)
XR_001744842.2:n.2361G>C (GATAD1)
XR_001744843.2:n.2292G>C (GATAD1)
XR_002956472.1:n.2418G>C (GATAD1)
XR_002956473.1:n.2449G>C (GATAD1)
XR_002956474.1:n.2366G>C (GATAD1)
XR_242246.5:n.3434C>G (PEX1)
XR_927494.3:n.1143G>C (GATAD1)
XR_927500.3:n.1140G>C (GATAD1)
XR_927503.3:n.1074G>C (GATAD1)
NM_000466.3:c.3387C>G (PEX1) MANE Select	NP_000457.1:p.Tyr1129Ter
NM_001282677.2:c.3216C>G (PEX1)	NP_001269606.1:p.Tyr1072Ter
NM_001282678.2:c.2763C>G (PEX1)	NP_001269607.1:p.Tyr921Ter