Canonical Allele Identifier: CA368178639

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131370A>C (hg19) ; chr7:g.92502056A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502056A>C , CM000669.2:g.92502056A>C	GRCh38
NC_000007.13:g.92131370A>C , CM000669.1:g.92131370A>C	GRCh37
NC_000007.12:g.91969306A>C	NCBI36
NG_008341.1:g.31476T>G
NG_008341.2:g.31476T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2250T>G MANE Select	ENSP00000248633.4:p.Cys750Trp
ENST00000248633.8:c.2250T>G	ENSP00000248633.4:p.Cys750Trp
ENST00000428214.5:c.2079T>G	ENSP00000394413.1:p.Cys693Trp
ENST00000438045.5:c.1284T>G	ENSP00000410438.1:p.Cys428Trp
ENST00000484913.5:n.2289T>G
ENST00000496092.1:n.48T>G
ENST00000496420.5:n.1926T>G
NM_000466.2:c.2250T>G	NP_000457.1:p.Cys750Trp
NM_001282677.1:c.2079T>G	NP_001269606.1:p.Cys693Trp
NM_001282678.1:c.1626T>G	NP_001269607.1:p.Cys542Trp
XM_005250433.3:c.501T>G	XP_005250490.1:p.Cys167Trp
XR_242246.3:n.2346T>G
XM_017012319.2:c.501T>G	XP_016867808.1:p.Cys167Trp
XR_001744808.2:n.1277T>G
XR_242246.5:n.2297T>G
NM_000466.3:c.2250T>G MANE Select	NP_000457.1:p.Cys750Trp
NM_001282677.2:c.2079T>G	NP_001269606.1:p.Cys693Trp
NM_001282678.2:c.1626T>G	NP_001269607.1:p.Cys542Trp