Canonical Allele Identifier: CA365766563

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219296A>T (hg19) ; chr6:g.136898158A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898158A>T , CM000668.2:g.136898158A>T	GRCh38
NC_000006.11:g.137219296A>T , CM000668.1:g.137219296A>T	GRCh37
NC_000006.10:g.137260989A>T	NCBI36
NG_008462.1:g.80579A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.820A>T MANE Select	ENSP00000315680.3:p.Lys274Ter
ENST00000541292.6:c.*85A>T	ENSP00000441004.1:n.*85A>T
ENST00000678002.1:c.508A>T
ENST00000678557.1:c.706A>T	ENSP00000502962.1:p.Lys236Ter
ENST00000679286.1:c.700A>T	ENSP00000503168.1:p.Lys234Ter
ENST00000318471.4:c.820A>T	ENSP00000315680.3:p.Lys274Ter
NM_000288.3:c.820A>T	NP_000279.1:p.Lys274Ter
XM_005267019.3:c.706A>T	XP_005267076.1:p.Lys236Ter
XM_006715502.1:c.526A>T	XP_006715565.1:p.Lys176Ter
XM_011535900.1:c.543A>T	XP_011534202.1:p.Gln181His
XM_005267019.4:c.706A>T	XP_005267076.1:p.Lys236Ter
XM_006715502.2:c.526A>T	XP_006715565.1:p.Lys176Ter
XM_017010934.2:c.543A>T	XP_016866423.1:p.Gln181His
NM_000288.4:c.820A>T MANE Select	NP_000279.1:p.Lys274Ter