Canonical Allele Identifier: CA368163559

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120638T>A (hg19) ; chr7:g.92491324T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491324T>A , CM000669.2:g.92491324T>A	GRCh38
NC_000007.13:g.92120638T>A , CM000669.1:g.92120638T>A	GRCh37
NC_000007.12:g.91958574T>A	NCBI36
NG_008341.1:g.42208A>T
NG_008341.2:g.42208A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3386A>T (PEX1) MANE Select	ENSP00000248633.4:p.Tyr1129Phe
ENST00000248633.8:c.3386A>T (PEX1)	ENSP00000248633.4:p.Tyr1129Phe
ENST00000428214.5:c.3215A>T (PEX1)	ENSP00000394413.1:p.Tyr1072Phe
ENST00000438045.5:c.2420A>T (PEX1)	ENSP00000410438.1:p.Tyr807Phe
ENST00000484913.5:n.3425A>T (PEX1)
ENST00000496420.5:n.4441A>T (PEX1)
NM_000466.2:c.3386A>T (PEX1)	NP_000457.1:p.Tyr1129Phe
NM_001282677.1:c.3215A>T (PEX1)	NP_001269606.1:p.Tyr1072Phe
NM_001282678.1:c.2762A>T (PEX1)	NP_001269607.1:p.Tyr921Phe
XM_005250433.3:c.1637A>T (PEX1)	XP_005250490.1:p.Tyr546Phe
XR_242246.3:n.3482A>T (PEX1)
XR_927494.1:n.1117T>A (GATAD1)
XR_927497.1:n.1174T>A (GATAD1)
XR_927500.1:n.1114T>A (GATAD1)
XM_017012319.2:c.1637A>T (PEX1)	XP_016867808.1:p.Tyr546Phe
XR_001744808.2:n.2413A>T (PEX1)
XR_001744842.2:n.2362T>A (GATAD1)
XR_001744843.2:n.2293T>A (GATAD1)
XR_002956472.1:n.2419T>A (GATAD1)
XR_002956473.1:n.2450T>A (GATAD1)
XR_002956474.1:n.2367T>A (GATAD1)
XR_242246.5:n.3433A>T (PEX1)
XR_927494.3:n.1144T>A (GATAD1)
XR_927500.3:n.1141T>A (GATAD1)
XR_927503.3:n.1075T>A (GATAD1)
NM_000466.3:c.3386A>T (PEX1) MANE Select	NP_000457.1:p.Tyr1129Phe
NM_001282677.2:c.3215A>T (PEX1)	NP_001269606.1:p.Tyr1072Phe
NM_001282678.2:c.2762A>T (PEX1)	NP_001269607.1:p.Tyr921Phe