Canonical Allele Identifier: CA246556

Gene: PEX7

Linked Data

• ClinVar Variation Id: 198066
• ClinVar RCV Id: RCV000179285 ; RCV000265395 ; RCV000301749
• dbSNP Id: rs776411851
• ExAC: 6:137187814 C / T
• gnomAD v2: 6-137187814-C-T
• gnomAD v3: 6-136866676-C-T
• gnomAD v4: 6-136866676-C-T
• COSMIC: COSM1261965
• MyVariant Identifiers: chr6:g.137187814C>T (hg19) ; chr6:g.136866676C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866676C>T , CM000668.2:g.136866676C>T	GRCh38
NC_000006.11:g.137187814C>T , CM000668.1:g.137187814C>T	GRCh37
NC_000006.10:g.137229507C>T	NCBI36
NG_008462.1:g.49097C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.576C>T MANE Select	ENSP00000315680.3:p.Ile192=
ENST00000541292.6:c.576C>T	ENSP00000441004.1:p.Ile192=
ENST00000678002.1:c.264C>T
ENST00000678557.1:c.462C>T	ENSP00000502962.1:p.Ile154=
ENST00000678593.1:c.581C>T	ENSP00000503841.1:n.581C>T
ENST00000679286.1:c.456C>T	ENSP00000503168.1:p.Ile152=
ENST00000318471.4:c.576C>T	ENSP00000315680.3:p.Ile192=
ENST00000541292.5:c.576C>T	ENSP00000441004.1:p.Ile192=
NM_000288.3:c.576C>T	NP_000279.1:p.Ile192=
XM_005267019.3:c.462C>T	XP_005267076.1:p.Ile154=
XM_006715502.1:c.340-3214C>T	XP_006715565.1:n.340-3214C>T
XM_011535900.1:c.526+20495C>T	XP_011534202.1:n.526+20495C>T
XM_005267019.4:c.462C>T	XP_005267076.1:p.Ile154=
XM_006715502.2:c.340-3214C>T	XP_006715565.1:n.340-3214C>T
XM_017010934.2:c.526+20495C>T	XP_016866423.1:n.526+20495C>T
NM_000288.4:c.576C>T MANE Select	NP_000279.1:p.Ile192=