Canonical Allele Identifier: CA365855958

Gene: PEX7

Linked Data

• dbSNP Id: rs1774193964
• MyVariant Identifiers: chr6:g.137147567C>T (hg19) ; chr6:g.136826429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826429C>T , CM000668.2:g.136826429C>T	GRCh38
NC_000006.11:g.137147567C>T , CM000668.1:g.137147567C>T	GRCh37
NC_000006.10:g.137189260C>T	NCBI36
NG_008462.1:g.8850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.299C>T MANE Select	ENSP00000315680.3:p.Ala100Val
ENST00000541292.6:c.299C>T	ENSP00000441004.1:p.Ala100Val
ENST00000678002.1:c.174C>T
ENST00000678557.1:c.185C>T	ENSP00000502962.1:p.Ala62Val
ENST00000678593.1:c.304C>T	ENSP00000503841.1:n.304C>T
ENST00000679286.1:c.179C>T	ENSP00000503168.1:p.Ala60Val
ENST00000318471.4:c.299C>T	ENSP00000315680.3:p.Ala100Val
ENST00000367756.8:c.299C>T	ENSP00000356730.4:p.Ala100Val
ENST00000541292.5:c.299C>T	ENSP00000441004.1:p.Ala100Val
NM_000288.3:c.299C>T	NP_000279.1:p.Ala100Val
XM_005267019.3:c.185C>T	XP_005267076.1:p.Ala62Val
XM_006715502.1:c.299C>T	XP_006715565.1:p.Ala100Val
XM_011535900.1:c.299C>T	XP_011534202.1:p.Ala100Val
XM_005267019.4:c.185C>T	XP_005267076.1:p.Ala62Val
XM_006715502.2:c.299C>T	XP_006715565.1:p.Ala100Val
XM_017010934.2:c.299C>T	XP_016866423.1:p.Ala100Val
NM_000288.4:c.299C>T MANE Select	NP_000279.1:p.Ala100Val