Canonical Allele Identifier: CA274123

Gene: PEX7

Linked Data

• ClinVar Variation Id: 188918
• ClinVar RCV Id: RCV000169280 ; RCV000654914
• dbSNP Id: rs61753236
• MyVariant Identifiers: chr6:g.137143877C>T (hg19) ; chr6:g.136822739C>T (hg38)
• PubMed: PMID:12325024 ; PMID:23352163

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822739C>T , CM000668.2:g.136822739C>T	GRCh38
NC_000006.11:g.137143877C>T , CM000668.1:g.137143877C>T	GRCh37
NC_000006.10:g.137185570C>T	NCBI36
NG_008462.1:g.5160C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.74C>T MANE Select	ENSP00000315680.3:p.Ser25Phe
ENST00000541292.6:c.74C>T	ENSP00000441004.1:p.Ser25Phe
ENST00000678593.1:c.74C>T	ENSP00000503841.1:p.Ser25Phe
ENST00000318471.4:c.74C>T	ENSP00000315680.3:p.Ser25Phe
ENST00000367756.8:c.74C>T	ENSP00000356730.4:p.Ser25Phe
ENST00000541292.5:c.74C>T	ENSP00000441004.1:p.Ser25Phe
NM_000288.3:c.74C>T	NP_000279.1:p.Ser25Phe
XM_006715502.1:c.74C>T	XP_006715565.1:p.Ser25Phe
XM_011535900.1:c.74C>T	XP_011534202.1:p.Ser25Phe
XM_006715502.2:c.74C>T	XP_006715565.1:p.Ser25Phe
XM_017010934.2:c.74C>T	XP_016866423.1:p.Ser25Phe
NM_000288.4:c.74C>T MANE Select	NP_000279.1:p.Ser25Phe