Canonical Allele Identifier: CA368170926

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92126045A>C (hg19) ; chr7:g.92496731A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496731A>C , CM000669.2:g.92496731A>C	GRCh38
NC_000007.13:g.92126045A>C , CM000669.1:g.92126045A>C	GRCh37
NC_000007.12:g.91963981A>C	NCBI36
NG_008341.1:g.36801T>G
NG_008341.2:g.36801T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2765T>G MANE Select	ENSP00000248633.4:p.Val922Gly
ENST00000248633.8:c.2765T>G	ENSP00000248633.4:p.Val922Gly
ENST00000428214.5:c.2594T>G	ENSP00000394413.1:p.Val865Gly
ENST00000438045.5:c.1799T>G	ENSP00000410438.1:p.Val600Gly
ENST00000484913.5:n.2804T>G
ENST00000496420.5:n.2657T>G
NM_000466.2:c.2765T>G	NP_000457.1:p.Val922Gly
NM_001282677.1:c.2594T>G	NP_001269606.1:p.Val865Gly
NM_001282678.1:c.2141T>G	NP_001269607.1:p.Val714Gly
XM_005250433.3:c.1016T>G	XP_005250490.1:p.Val339Gly
XR_242246.3:n.2861T>G
XM_017012319.2:c.1016T>G	XP_016867808.1:p.Val339Gly
XR_001744808.2:n.1792T>G
XR_242246.5:n.2812T>G
NM_000466.3:c.2765T>G MANE Select	NP_000457.1:p.Val922Gly
NM_001282677.2:c.2594T>G	NP_001269606.1:p.Val865Gly
NM_001282678.2:c.2141T>G	NP_001269607.1:p.Val714Gly