Canonical Allele Identifier: CA4341301

Gene: PEX1

Linked Data

• ClinVar Variation Id: 3021622
• ClinVar RCV Id: RCV003880205
• dbSNP Id: rs376403633
• ExAC: 7:92136294 C / A
• gnomAD v2: 7-92136294-C-A
• gnomAD v4: 7-92506980-C-A
• MyVariant Identifiers: chr7:g.92136294C>A (hg19) ; chr7:g.92506980C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506980C>A , CM000669.2:g.92506980C>A	GRCh38
NC_000007.13:g.92136294C>A , CM000669.1:g.92136294C>A	GRCh37
NC_000007.12:g.91974230C>A	NCBI36
NG_008341.1:g.26552G>T
NG_008341.2:g.26552G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1803+14G>T MANE Select	ENSP00000248633.4:n.1803+14G>T
ENST00000248633.8:c.1803+14G>T	ENSP00000248633.4:n.1803+14G>T
ENST00000422866.1:c.621+14G>T
ENST00000428214.5:c.1803+14G>T	ENSP00000394413.1:n.1803+14G>T
ENST00000438045.5:c.837+14G>T	ENSP00000410438.1:n.837+14G>T
ENST00000484913.5:n.1842+14G>T
ENST00000496420.5:n.844G>T
NM_000466.2:c.1803+14G>T	NP_000457.1:n.1803+14G>T
NM_001282677.1:c.1803+14G>T	NP_001269606.1:n.1803+14G>T
NM_001282678.1:c.1179+14G>T	NP_001269607.1:n.1179+14G>T
XM_005250433.3:c.54+14G>T	XP_005250490.1:n.54+14G>T
XR_242246.3:n.1899+14G>T
XM_017012319.2:c.54+14G>T	XP_016867808.1:n.54+14G>T
XR_001744808.2:n.830+14G>T
XR_242246.5:n.1850+14G>T
NM_000466.3:c.1803+14G>T MANE Select	NP_000457.1:n.1803+14G>T
NM_001282677.2:c.1803+14G>T	NP_001269606.1:n.1803+14G>T
NM_001282678.2:c.1179+14G>T	NP_001269607.1:n.1179+14G>T