Canonical Allele Identifier: CA365766594

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1953379
• ClinVar RCV Id: RCV002700299
• MyVariant Identifiers: chr6:g.137219306C>G (hg19) ; chr6:g.136898168C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898168C>G , CM000668.2:g.136898168C>G	GRCh38
NC_000006.11:g.137219306C>G , CM000668.1:g.137219306C>G	GRCh37
NC_000006.10:g.137260999C>G	NCBI36
NG_008462.1:g.80589C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.830C>G MANE Select	ENSP00000315680.3:p.Ser277Cys
ENST00000541292.6:c.*95C>G	ENSP00000441004.1:n.*95C>G
ENST00000678002.1:c.518C>G
ENST00000678557.1:c.716C>G	ENSP00000502962.1:p.Ser239Cys
ENST00000679286.1:c.710C>G	ENSP00000503168.1:p.Ser237Cys
ENST00000318471.4:c.830C>G	ENSP00000315680.3:p.Ser277Cys
NM_000288.3:c.830C>G	NP_000279.1:p.Ser277Cys
XM_005267019.3:c.716C>G	XP_005267076.1:p.Ser239Cys
XM_006715502.1:c.536C>G	XP_006715565.1:p.Ser179Cys
XM_011535900.1:c.553C>G	XP_011534202.1:p.Leu185Val
XM_005267019.4:c.716C>G	XP_005267076.1:p.Ser239Cys
XM_006715502.2:c.536C>G	XP_006715565.1:p.Ser179Cys
XM_017010934.2:c.553C>G	XP_016866423.1:p.Leu185Val
NM_000288.4:c.830C>G MANE Select	NP_000279.1:p.Ser277Cys