Canonical Allele Identifier: CA4341252

Gene: PEX1

Linked Data

• dbSNP Id: rs202090906
• ExAC: 7:92134190 T / C
• gnomAD v2: 7-92134190-T-C
• gnomAD v3: 7-92504876-T-C
• gnomAD v4: 7-92504876-T-C
• MyVariant Identifiers: chr7:g.92134190T>C (hg19) ; chr7:g.92504876T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504876T>C , CM000669.2:g.92504876T>C	GRCh38
NC_000007.13:g.92134190T>C , CM000669.1:g.92134190T>C	GRCh37
NC_000007.12:g.91972126T>C	NCBI36
NG_008341.1:g.28656A>G
NG_008341.2:g.28656A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1927A>G MANE Select	ENSP00000248633.4:p.Thr643Ala
ENST00000248633.8:c.1927A>G	ENSP00000248633.4:p.Thr643Ala
ENST00000428214.5:c.1900+1372A>G	ENSP00000394413.1:n.1900+1372A>G
ENST00000438045.5:c.961A>G	ENSP00000410438.1:p.Thr321Ala
ENST00000484913.5:n.1966A>G
ENST00000496420.5:n.1603A>G
NM_000466.2:c.1927A>G	NP_000457.1:p.Thr643Ala
NM_001282677.1:c.1900+1372A>G	NP_001269606.1:n.1900+1372A>G
NM_001282678.1:c.1303A>G	NP_001269607.1:p.Thr435Ala
XM_005250433.3:c.178A>G	XP_005250490.1:p.Thr60Ala
XR_242246.3:n.2023A>G
XM_017012319.2:c.178A>G	XP_016867808.1:p.Thr60Ala
XR_001744808.2:n.954A>G
XR_242246.5:n.1974A>G
NM_000466.3:c.1927A>G MANE Select	NP_000457.1:p.Thr643Ala
NM_001282677.2:c.1900+1372A>G	NP_001269606.1:n.1900+1372A>G
NM_001282678.2:c.1303A>G	NP_001269607.1:p.Thr435Ala