Canonical Allele Identifier: CA456481600

Linked Data

MyVariant Identifiers: chr7:g.92123853G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494539G>A , CM000669.2:g.92494539G>A GRCh38
NC_000007.13:g.92123853G>A , CM000669.1:g.92123853G>A GRCh37
NC_000007.12:g.91961789G>A NCBI36
NG_008341.1:g.38993C>T
NG_008341.2:g.38993C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2874C>T (PEX1) MANE Select ENSP00000248633.4:p.Asp958=
ENST00000248633.8:c.2874C>T (PEX1) ENSP00000248633.4:p.Asp958=
ENST00000428214.5:c.2703C>T (PEX1) ENSP00000394413.1:p.Asp901=
ENST00000438045.5:c.1908C>T (PEX1) ENSP00000410438.1:p.Asp636=
ENST00000484913.5:n.2913C>T (PEX1)
ENST00000496420.5:n.2766C>T (PEX1)
NM_000466.2:c.2874C>T (PEX1) NP_000457.1:p.Asp958=
NM_001282677.1:c.2703C>T (PEX1) NP_001269606.1:p.Asp901=
NM_001282678.1:c.2250C>T (PEX1) NP_001269607.1:p.Asp750=
XM_005250433.3:c.1125C>T (PEX1) XP_005250490.1:p.Asp375=
XR_242246.3:n.2970C>T (PEX1)
XM_017012319.2:c.1125C>T (PEX1) XP_016867808.1:p.Asp375=
XR_001744808.2:n.1901C>T (PEX1)
XR_001744843.2:n.5508G>A (GATAD1)
XR_242246.5:n.2921C>T (PEX1)
XR_927494.3:n.4359G>A (GATAD1)
XR_927503.3:n.4290G>A (GATAD1)
NM_000466.3:c.2874C>T (PEX1) MANE Select NP_000457.1:p.Asp958=
NM_001282677.2:c.2703C>T (PEX1) NP_001269606.1:p.Asp901=
NM_001282678.2:c.2250C>T (PEX1) NP_001269607.1:p.Asp750=