Canonical Allele Identifier: CA368177406

Gene: PEX1

Linked Data

• gnomAD v4: 7-92501946-A-G
• MyVariant Identifiers: chr7:g.92131260A>G (hg19) ; chr7:g.92501946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501946A>G , CM000669.2:g.92501946A>G	GRCh38
NC_000007.13:g.92131260A>G , CM000669.1:g.92131260A>G	GRCh37
NC_000007.12:g.91969196A>G	NCBI36
NG_008341.1:g.31586T>C
NG_008341.2:g.31586T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2360T>C MANE Select	ENSP00000248633.4:p.Leu787Pro
ENST00000248633.8:c.2360T>C	ENSP00000248633.4:p.Leu787Pro
ENST00000428214.5:c.2189T>C	ENSP00000394413.1:p.Leu730Pro
ENST00000438045.5:c.1394T>C	ENSP00000410438.1:p.Leu465Pro
ENST00000484913.5:n.2399T>C
ENST00000496092.1:n.158T>C
ENST00000496420.5:n.2036T>C
NM_000466.2:c.2360T>C	NP_000457.1:p.Leu787Pro
NM_001282677.1:c.2189T>C	NP_001269606.1:p.Leu730Pro
NM_001282678.1:c.1736T>C	NP_001269607.1:p.Leu579Pro
XM_005250433.3:c.611T>C	XP_005250490.1:p.Leu204Pro
XR_242246.3:n.2456T>C
XM_017012319.2:c.611T>C	XP_016867808.1:p.Leu204Pro
XR_001744808.2:n.1387T>C
XR_242246.5:n.2407T>C
NM_000466.3:c.2360T>C MANE Select	NP_000457.1:p.Leu787Pro
NM_001282677.2:c.2189T>C	NP_001269606.1:p.Leu730Pro
NM_001282678.2:c.1736T>C	NP_001269607.1:p.Leu579Pro