Canonical Allele Identifier: CA4017482

Gene: PEX7

Linked Data

• ClinVar Variation Id: 498141
• ClinVar RCV Id: RCV000597849 ; RCV000765866 ; RCV001058802 ; RCV001275003 ; RCV002532401
• dbSNP Id: rs757852291
• ExAC: 6:137143889 C / T
• gnomAD v2: 6-137143889-C-T
• gnomAD v3: 6-136822751-C-T
• gnomAD v4: 6-136822751-C-T
• MyVariant Identifiers: chr6:g.137143889C>T (hg19) ; chr6:g.137143889_137143890delinsTG (hg19) ; chr6:g.136822751C>T (hg38) ; chr6:g.136822751_136822752delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822751C>T , CM000668.2:g.136822751C>T	GRCh38
NC_000006.11:g.137143889C>T , CM000668.1:g.137143889C>T	GRCh37
NC_000006.10:g.137185582C>T	NCBI36
NG_008462.1:g.5172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.86C>T MANE Select	ENSP00000315680.3:p.Pro29Leu
ENST00000541292.6:c.86C>T	ENSP00000441004.1:p.Pro29Leu
ENST00000678593.1:c.86C>T	ENSP00000503841.1:p.Pro29Leu
ENST00000318471.4:c.86C>T	ENSP00000315680.3:p.Pro29Leu
ENST00000367756.8:c.86C>T	ENSP00000356730.4:p.Pro29Leu
ENST00000541292.5:c.86C>T	ENSP00000441004.1:p.Pro29Leu
NM_000288.3:c.86C>T	NP_000279.1:p.Pro29Leu
XM_006715502.1:c.86C>T	XP_006715565.1:p.Pro29Leu
XM_011535900.1:c.86C>T	XP_011534202.1:p.Pro29Leu
XM_006715502.2:c.86C>T	XP_006715565.1:p.Pro29Leu
XM_017010934.2:c.86C>T	XP_016866423.1:p.Pro29Leu
NM_000288.4:c.86C>T MANE Select	NP_000279.1:p.Pro29Leu