Canonical Allele Identifier: CA368182299

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92132504T>A (hg19) ; chr7:g.92503190T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503190T>A , CM000669.2:g.92503190T>A	GRCh38
NC_000007.13:g.92132504T>A , CM000669.1:g.92132504T>A	GRCh37
NC_000007.12:g.91970440T>A	NCBI36
NG_008341.1:g.30342A>T
NG_008341.2:g.30342A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2077A>T MANE Select	ENSP00000248633.4:p.Asn693Tyr
ENST00000248633.8:c.2077A>T	ENSP00000248633.4:p.Asn693Tyr
ENST00000428214.5:c.1906A>T	ENSP00000394413.1:p.Asn636Tyr
ENST00000438045.5:c.1111A>T	ENSP00000410438.1:p.Asn371Tyr
ENST00000484913.5:n.2116A>T
ENST00000496420.5:n.1753A>T
NM_000466.2:c.2077A>T	NP_000457.1:p.Asn693Tyr
NM_001282677.1:c.1906A>T	NP_001269606.1:p.Asn636Tyr
NM_001282678.1:c.1453A>T	NP_001269607.1:p.Asn485Tyr
XM_005250433.3:c.328A>T	XP_005250490.1:p.Asn110Tyr
XR_242246.3:n.2173A>T
XM_017012319.2:c.328A>T	XP_016867808.1:p.Asn110Tyr
XR_001744808.2:n.1104A>T
XR_242246.5:n.2124A>T
NM_000466.3:c.2077A>T MANE Select	NP_000457.1:p.Asn693Tyr
NM_001282677.2:c.1906A>T	NP_001269606.1:p.Asn636Tyr
NM_001282678.2:c.1453A>T	NP_001269607.1:p.Asn485Tyr