Canonical Allele Identifier: CA4341028

Gene: PEX1

Linked Data

• dbSNP Id: rs768127515
• ExAC: 7:92126071 T / G
• gnomAD v2: 7-92126071-T-G
• gnomAD v4: 7-92496757-T-G
• MyVariant Identifiers: chr7:g.92126071T>G (hg19) ; chr7:g.92496757T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496757T>G , CM000669.2:g.92496757T>G	GRCh38
NC_000007.13:g.92126071T>G , CM000669.1:g.92126071T>G	GRCh37
NC_000007.12:g.91964007T>G	NCBI36
NG_008341.1:g.36775A>C
NG_008341.2:g.36775A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2739A>C MANE Select	ENSP00000248633.4:p.Lys913Asn
ENST00000248633.8:c.2739A>C	ENSP00000248633.4:p.Lys913Asn
ENST00000428214.5:c.2568A>C	ENSP00000394413.1:p.Lys856Asn
ENST00000438045.5:c.1773A>C	ENSP00000410438.1:p.Lys591Asn
ENST00000484913.5:n.2778A>C
ENST00000496420.5:n.2631A>C
NM_000466.2:c.2739A>C	NP_000457.1:p.Lys913Asn
NM_001282677.1:c.2568A>C	NP_001269606.1:p.Lys856Asn
NM_001282678.1:c.2115A>C	NP_001269607.1:p.Lys705Asn
XM_005250433.3:c.990A>C	XP_005250490.1:p.Lys330Asn
XR_242246.3:n.2835A>C
XM_017012319.2:c.990A>C	XP_016867808.1:p.Lys330Asn
XR_001744808.2:n.1766A>C
XR_242246.5:n.2786A>C
NM_000466.3:c.2739A>C MANE Select	NP_000457.1:p.Lys913Asn
NM_001282677.2:c.2568A>C	NP_001269606.1:p.Lys856Asn
NM_001282678.2:c.2115A>C	NP_001269607.1:p.Lys705Asn