Canonical Allele Identifier: CA456482968

Gene: PEX1

Linked Data

• ClinVar Variation Id: 594917
• ClinVar RCV Id: RCV000730319 ; RCV001448407 ; RCV003983187
• dbSNP Id: rs1434174453
• gnomAD v2: 7-92131352-T-C
• gnomAD v3: 7-92502038-T-C
• gnomAD v4: 7-92502038-T-C
• MyVariant Identifiers: chr7:g.92131352T>C (hg19) ; chr7:g.92502038T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502038T>C , CM000669.2:g.92502038T>C	GRCh38
NC_000007.13:g.92131352T>C , CM000669.1:g.92131352T>C	GRCh37
NC_000007.12:g.91969288T>C	NCBI36
NG_008341.1:g.31494A>G
NG_008341.2:g.31494A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2268A>G MANE Select	ENSP00000248633.4:p.Lys756=
ENST00000248633.8:c.2268A>G	ENSP00000248633.4:p.Lys756=
ENST00000428214.5:c.2097A>G	ENSP00000394413.1:p.Lys699=
ENST00000438045.5:c.1302A>G	ENSP00000410438.1:p.Lys434=
ENST00000484913.5:n.2307A>G
ENST00000496092.1:n.66A>G
ENST00000496420.5:n.1944A>G
NM_000466.2:c.2268A>G	NP_000457.1:p.Lys756=
NM_001282677.1:c.2097A>G	NP_001269606.1:p.Lys699=
NM_001282678.1:c.1644A>G	NP_001269607.1:p.Lys548=
XM_005250433.3:c.519A>G	XP_005250490.1:p.Lys173=
XR_242246.3:n.2364A>G
XM_017012319.2:c.519A>G	XP_016867808.1:p.Lys173=
XR_001744808.2:n.1295A>G
XR_242246.5:n.2315A>G
NM_000466.3:c.2268A>G MANE Select	NP_000457.1:p.Lys756=
NM_001282677.2:c.2097A>G	NP_001269606.1:p.Lys699=
NM_001282678.2:c.1644A>G	NP_001269607.1:p.Lys548=