Canonical Allele Identifier: CA4341194

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1935735
• ClinVar RCV Id: RCV002636055 ; RCV003138317
• dbSNP Id: rs763753721
• ExAC: 7:92132355 C / G
• gnomAD v2: 7-92132355-C-G
• gnomAD v3: 7-92503041-C-G
• gnomAD v4: 7-92503041-C-G
• MyVariant Identifiers: chr7:g.92132355C>G (hg19) ; chr7:g.92503041C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503041C>G , CM000669.2:g.92503041C>G	GRCh38
NC_000007.13:g.92132355C>G , CM000669.1:g.92132355C>G	GRCh37
NC_000007.12:g.91970291C>G	NCBI36
NG_008341.1:g.30491G>C
NG_008341.2:g.30491G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2226G>C MANE Select	ENSP00000248633.4:p.Gln742His
ENST00000248633.8:c.2226G>C	ENSP00000248633.4:p.Gln742His
ENST00000428214.5:c.2055G>C	ENSP00000394413.1:p.Gln685His
ENST00000438045.5:c.1260G>C	ENSP00000410438.1:p.Gln420His
ENST00000484913.5:n.2265G>C
ENST00000496092.1:n.24G>C
ENST00000496420.5:n.1902G>C
NM_000466.2:c.2226G>C	NP_000457.1:p.Gln742His
NM_001282677.1:c.2055G>C	NP_001269606.1:p.Gln685His
NM_001282678.1:c.1602G>C	NP_001269607.1:p.Gln534His
XM_005250433.3:c.477G>C	XP_005250490.1:p.Gln159His
XR_242246.3:n.2322G>C
XM_017012319.2:c.477G>C	XP_016867808.1:p.Gln159His
XR_001744808.2:n.1253G>C
XR_242246.5:n.2273G>C
NM_000466.3:c.2226G>C MANE Select	NP_000457.1:p.Gln742His
NM_001282677.2:c.2055G>C	NP_001269606.1:p.Gln685His
NM_001282678.2:c.1602G>C	NP_001269607.1:p.Gln534His