Canonical Allele Identifier: CA365762876

Gene: PEX7

Linked Data

• ClinVar Variation Id: 904199
• ClinVar RCV Id: RCV001151968 ; RCV001151969
• dbSNP Id: rs1424846175
• gnomAD v2: 6-137187792-T-C
• gnomAD v4: 6-136866654-T-C
• MyVariant Identifiers: chr6:g.137187792T>C (hg19) ; chr6:g.136866654T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866654T>C , CM000668.2:g.136866654T>C	GRCh38
NC_000006.11:g.137187792T>C , CM000668.1:g.137187792T>C	GRCh37
NC_000006.10:g.137229485T>C	NCBI36
NG_008462.1:g.49075T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.554T>C MANE Select	ENSP00000315680.3:p.Val185Ala
ENST00000541292.6:c.554T>C	ENSP00000441004.1:p.Val185Ala
ENST00000678002.1:c.242T>C
ENST00000678557.1:c.440T>C	ENSP00000502962.1:p.Val147Ala
ENST00000678593.1:c.559T>C	ENSP00000503841.1:n.559T>C
ENST00000679286.1:c.434T>C	ENSP00000503168.1:p.Val145Ala
ENST00000318471.4:c.554T>C	ENSP00000315680.3:p.Val185Ala
ENST00000541292.5:c.554T>C	ENSP00000441004.1:p.Val185Ala
NM_000288.3:c.554T>C	NP_000279.1:p.Val185Ala
XM_005267019.3:c.440T>C	XP_005267076.1:p.Val147Ala
XM_006715502.1:c.340-3236T>C	XP_006715565.1:n.340-3236T>C
XM_011535900.1:c.526+20473T>C	XP_011534202.1:n.526+20473T>C
XM_005267019.4:c.440T>C	XP_005267076.1:p.Val147Ala
XM_006715502.2:c.340-3236T>C	XP_006715565.1:n.340-3236T>C
XM_017010934.2:c.526+20473T>C	XP_016866423.1:n.526+20473T>C
NM_000288.4:c.554T>C MANE Select	NP_000279.1:p.Val185Ala