Canonical Allele Identifier: CA365763042

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137187831A>T (hg19) ; chr6:g.136866693A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866693A>T , CM000668.2:g.136866693A>T	GRCh38
NC_000006.11:g.137187831A>T , CM000668.1:g.137187831A>T	GRCh37
NC_000006.10:g.137229524A>T	NCBI36
NG_008462.1:g.49114A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.593A>T MANE Select	ENSP00000315680.3:p.Gln198Leu
ENST00000541292.6:c.593A>T	ENSP00000441004.1:p.Gln198Leu
ENST00000678002.1:c.281A>T
ENST00000678557.1:c.479A>T	ENSP00000502962.1:p.Gln160Leu
ENST00000678593.1:c.598A>T	ENSP00000503841.1:n.598A>T
ENST00000679286.1:c.473A>T	ENSP00000503168.1:p.Gln158Leu
ENST00000318471.4:c.593A>T	ENSP00000315680.3:p.Gln198Leu
ENST00000541292.5:c.593A>T	ENSP00000441004.1:p.Gln198Leu
NM_000288.3:c.593A>T	NP_000279.1:p.Gln198Leu
XM_005267019.3:c.479A>T	XP_005267076.1:p.Gln160Leu
XM_006715502.1:c.340-3197A>T	XP_006715565.1:n.340-3197A>T
XM_011535900.1:c.526+20512A>T	XP_011534202.1:n.526+20512A>T
XM_005267019.4:c.479A>T	XP_005267076.1:p.Gln160Leu
XM_006715502.2:c.340-3197A>T	XP_006715565.1:n.340-3197A>T
XM_017010934.2:c.526+20512A>T	XP_016866423.1:n.526+20512A>T
NM_000288.4:c.593A>T MANE Select	NP_000279.1:p.Gln198Leu