Canonical Allele Identifier: CA4341207

Gene: PEX1

Linked Data

• dbSNP Id: rs746237930
• ExAC: 7:92132477 T / C
• gnomAD v4: 7-92503163-T-C
• MyVariant Identifiers: chr7:g.92132477T>C (hg19) ; chr7:g.92503163T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503163T>C , CM000669.2:g.92503163T>C	GRCh38
NC_000007.13:g.92132477T>C , CM000669.1:g.92132477T>C	GRCh37
NC_000007.12:g.91970413T>C	NCBI36
NG_008341.1:g.30369A>G
NG_008341.2:g.30369A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2104A>G MANE Select	ENSP00000248633.4:p.Met702Val
ENST00000248633.8:c.2104A>G	ENSP00000248633.4:p.Met702Val
ENST00000428214.5:c.1933A>G	ENSP00000394413.1:p.Met645Val
ENST00000438045.5:c.1138A>G	ENSP00000410438.1:p.Met380Val
ENST00000484913.5:n.2143A>G
ENST00000496420.5:n.1780A>G
NM_000466.2:c.2104A>G	NP_000457.1:p.Met702Val
NM_001282677.1:c.1933A>G	NP_001269606.1:p.Met645Val
NM_001282678.1:c.1480A>G	NP_001269607.1:p.Met494Val
XM_005250433.3:c.355A>G	XP_005250490.1:p.Met119Val
XR_242246.3:n.2200A>G
XM_017012319.2:c.355A>G	XP_016867808.1:p.Met119Val
XR_001744808.2:n.1131A>G
XR_242246.5:n.2151A>G
NM_000466.3:c.2104A>G MANE Select	NP_000457.1:p.Met702Val
NM_001282677.2:c.1933A>G	NP_001269606.1:p.Met645Val
NM_001282678.2:c.1480A>G	NP_001269607.1:p.Met494Val