Canonical Allele Identifier: CA368173878

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92129092G>A (hg19) ; chr7:g.92499778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499778G>A , CM000669.2:g.92499778G>A	GRCh38
NC_000007.13:g.92129092G>A , CM000669.1:g.92129092G>A	GRCh37
NC_000007.12:g.91967028G>A	NCBI36
NG_008341.1:g.33754C>T
NG_008341.2:g.33754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2644C>T MANE Select	ENSP00000248633.4:p.Pro882Ser
ENST00000248633.8:c.2644C>T	ENSP00000248633.4:p.Pro882Ser
ENST00000428214.5:c.2473C>T	ENSP00000394413.1:p.Pro825Ser
ENST00000438045.5:c.1678C>T	ENSP00000410438.1:p.Pro560Ser
ENST00000484913.5:n.2683C>T
ENST00000496420.5:n.2536C>T
NM_000466.2:c.2644C>T	NP_000457.1:p.Pro882Ser
NM_001282677.1:c.2473C>T	NP_001269606.1:p.Pro825Ser
NM_001282678.1:c.2020C>T	NP_001269607.1:p.Pro674Ser
XM_005250433.3:c.895C>T	XP_005250490.1:p.Pro299Ser
XR_242246.3:n.2740C>T
XM_017012319.2:c.895C>T	XP_016867808.1:p.Pro299Ser
XR_001744808.2:n.1671C>T
XR_242246.5:n.2691C>T
NM_000466.3:c.2644C>T MANE Select	NP_000457.1:p.Pro882Ser
NM_001282677.2:c.2473C>T	NP_001269606.1:p.Pro825Ser
NM_001282678.2:c.2020C>T	NP_001269607.1:p.Pro674Ser