Canonical Allele Identifier: CA365762824

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137187781A>T (hg19) ; chr6:g.136866643A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866643A>T , CM000668.2:g.136866643A>T	GRCh38
NC_000006.11:g.137187781A>T , CM000668.1:g.137187781A>T	GRCh37
NC_000006.10:g.137229474A>T	NCBI36
NG_008462.1:g.49064A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.543A>T MANE Select	ENSP00000315680.3:p.Arg181Ser
ENST00000541292.6:c.543A>T	ENSP00000441004.1:p.Arg181Ser
ENST00000678002.1:c.231A>T
ENST00000678557.1:c.429A>T	ENSP00000502962.1:p.Arg143Ser
ENST00000678593.1:c.548A>T	ENSP00000503841.1:n.548A>T
ENST00000679286.1:c.423A>T	ENSP00000503168.1:p.Arg141Ser
ENST00000318471.4:c.543A>T	ENSP00000315680.3:p.Arg181Ser
ENST00000541292.5:c.543A>T	ENSP00000441004.1:p.Arg181Ser
NM_000288.3:c.543A>T	NP_000279.1:p.Arg181Ser
XM_005267019.3:c.429A>T	XP_005267076.1:p.Arg143Ser
XM_006715502.1:c.340-3247A>T	XP_006715565.1:n.340-3247A>T
XM_011535900.1:c.526+20462A>T	XP_011534202.1:n.526+20462A>T
XM_005267019.4:c.429A>T	XP_005267076.1:p.Arg143Ser
XM_006715502.2:c.340-3247A>T	XP_006715565.1:n.340-3247A>T
XM_017010934.2:c.526+20462A>T	XP_016866423.1:n.526+20462A>T
NM_000288.4:c.543A>T MANE Select	NP_000279.1:p.Arg181Ser