Canonical Allele Identifier: CA4341210

Gene: PEX1

Linked Data

• dbSNP Id: rs761292090
• ExAC: 7:92132505 C / A
• gnomAD v2: 7-92132505-C-A
• gnomAD v4: 7-92503191-C-A
• MyVariant Identifiers: chr7:g.92132505C>A (hg19) ; chr7:g.92503191C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503191C>A , CM000669.2:g.92503191C>A	GRCh38
NC_000007.13:g.92132505C>A , CM000669.1:g.92132505C>A	GRCh37
NC_000007.12:g.91970441C>A	NCBI36
NG_008341.1:g.30341G>T
NG_008341.2:g.30341G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2076G>T MANE Select	ENSP00000248633.4:p.Leu692Phe
ENST00000248633.8:c.2076G>T	ENSP00000248633.4:p.Leu692Phe
ENST00000428214.5:c.1905G>T	ENSP00000394413.1:p.Leu635Phe
ENST00000438045.5:c.1110G>T	ENSP00000410438.1:p.Leu370Phe
ENST00000484913.5:n.2115G>T
ENST00000496420.5:n.1752G>T
NM_000466.2:c.2076G>T	NP_000457.1:p.Leu692Phe
NM_001282677.1:c.1905G>T	NP_001269606.1:p.Leu635Phe
NM_001282678.1:c.1452G>T	NP_001269607.1:p.Leu484Phe
XM_005250433.3:c.327G>T	XP_005250490.1:p.Leu109Phe
XR_242246.3:n.2172G>T
XM_017012319.2:c.327G>T	XP_016867808.1:p.Leu109Phe
XR_001744808.2:n.1103G>T
XR_242246.5:n.2123G>T
NM_000466.3:c.2076G>T MANE Select	NP_000457.1:p.Leu692Phe
NM_001282677.2:c.1905G>T	NP_001269606.1:p.Leu635Phe
NM_001282678.2:c.1452G>T	NP_001269607.1:p.Leu484Phe