Canonical Allele Identifier: CA368181011

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92132362G>A (hg19) ; chr7:g.92503048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503048G>A , CM000669.2:g.92503048G>A	GRCh38
NC_000007.13:g.92132362G>A , CM000669.1:g.92132362G>A	GRCh37
NC_000007.12:g.91970298G>A	NCBI36
NG_008341.1:g.30484C>T
NG_008341.2:g.30484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2219C>T MANE Select	ENSP00000248633.4:p.Pro740Leu
ENST00000248633.8:c.2219C>T	ENSP00000248633.4:p.Pro740Leu
ENST00000428214.5:c.2048C>T	ENSP00000394413.1:p.Pro683Leu
ENST00000438045.5:c.1253C>T	ENSP00000410438.1:p.Pro418Leu
ENST00000484913.5:n.2258C>T
ENST00000496092.1:n.17C>T
ENST00000496420.5:n.1895C>T
NM_000466.2:c.2219C>T	NP_000457.1:p.Pro740Leu
NM_001282677.1:c.2048C>T	NP_001269606.1:p.Pro683Leu
NM_001282678.1:c.1595C>T	NP_001269607.1:p.Pro532Leu
XM_005250433.3:c.470C>T	XP_005250490.1:p.Pro157Leu
XR_242246.3:n.2315C>T
XM_017012319.2:c.470C>T	XP_016867808.1:p.Pro157Leu
XR_001744808.2:n.1246C>T
XR_242246.5:n.2266C>T
NM_000466.3:c.2219C>T MANE Select	NP_000457.1:p.Pro740Leu
NM_001282677.2:c.2048C>T	NP_001269606.1:p.Pro683Leu
NM_001282678.2:c.1595C>T	NP_001269607.1:p.Pro532Leu