Canonical Allele Identifier: CA365763954

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137191041C>A (hg19) ; chr6:g.136869903C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869903C>A , CM000668.2:g.136869903C>A	GRCh38
NC_000006.11:g.137191041C>A , CM000668.1:g.137191041C>A	GRCh37
NC_000006.10:g.137232734C>A	NCBI36
NG_008462.1:g.52324C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.647C>A MANE Select	ENSP00000315680.3:p.Thr216Asn
ENST00000541292.6:c.647C>A	ENSP00000441004.1:p.Thr216Asn
ENST00000678002.1:c.335C>A
ENST00000678557.1:c.533C>A	ENSP00000502962.1:p.Thr178Asn
ENST00000678593.1:c.652C>A	ENSP00000503841.1:n.652C>A
ENST00000679286.1:c.527C>A	ENSP00000503168.1:p.Thr176Asn
ENST00000318471.4:c.647C>A	ENSP00000315680.3:p.Thr216Asn
ENST00000541292.5:c.647C>A	ENSP00000441004.1:p.Thr216Asn
NM_000288.3:c.647C>A	NP_000279.1:p.Thr216Asn
XM_005267019.3:c.533C>A	XP_005267076.1:p.Thr178Asn
XM_006715502.1:c.353C>A	XP_006715565.1:p.Thr118Asn
XM_011535900.1:c.526+23722C>A	XP_011534202.1:n.526+23722C>A
XM_005267019.4:c.533C>A	XP_005267076.1:p.Thr178Asn
XM_006715502.2:c.353C>A	XP_006715565.1:p.Thr118Asn
XM_017010934.2:c.526+23722C>A	XP_016866423.1:n.526+23722C>A
NM_000288.4:c.647C>A MANE Select	NP_000279.1:p.Thr216Asn