Canonical Allele Identifier: CA452376979

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137147580G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826442G>T , CM000668.2:g.136826442G>T	GRCh38
NC_000006.11:g.137147580G>T , CM000668.1:g.137147580G>T	GRCh37
NC_000006.10:g.137189273G>T	NCBI36
NG_008462.1:g.8863G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.312G>T MANE Select	ENSP00000315680.3:p.Leu104=
ENST00000541292.6:c.312G>T	ENSP00000441004.1:p.Leu104=
ENST00000678002.1:c.187G>T
ENST00000678557.1:c.198G>T	ENSP00000502962.1:p.Leu66=
ENST00000678593.1:c.317G>T	ENSP00000503841.1:n.317G>T
ENST00000679286.1:c.192G>T	ENSP00000503168.1:p.Leu64=
ENST00000318471.4:c.312G>T	ENSP00000315680.3:p.Leu104=
ENST00000367756.8:c.312G>T	ENSP00000356730.4:p.Leu104=
ENST00000541292.5:c.312G>T	ENSP00000441004.1:p.Leu104=
NM_000288.3:c.312G>T	NP_000279.1:p.Leu104=
XM_005267019.3:c.198G>T	XP_005267076.1:p.Leu66=
XM_006715502.1:c.312G>T	XP_006715565.1:p.Leu104=
XM_011535900.1:c.312G>T	XP_011534202.1:p.Leu104=
XM_005267019.4:c.198G>T	XP_005267076.1:p.Leu66=
XM_006715502.2:c.312G>T	XP_006715565.1:p.Leu104=
XM_017010934.2:c.312G>T	XP_016866423.1:p.Leu104=
NM_000288.4:c.312G>T MANE Select	NP_000279.1:p.Leu104=