Canonical Allele Identifier: CA365855961

Gene: PEX7

Linked Data

• dbSNP Id: rs1774194018
• gnomAD v4: 6-136826431-G-T
• COSMIC: COSM5989418 ; COSM5989419
• MyVariant Identifiers: chr6:g.137147569G>T (hg19) ; chr6:g.136826431G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826431G>T , CM000668.2:g.136826431G>T	GRCh38
NC_000006.11:g.137147569G>T , CM000668.1:g.137147569G>T	GRCh37
NC_000006.10:g.137189262G>T	NCBI36
NG_008462.1:g.8852G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.301G>T MANE Select	ENSP00000315680.3:p.Ala101Ser
ENST00000541292.6:c.301G>T	ENSP00000441004.1:p.Ala101Ser
ENST00000678002.1:c.176G>T
ENST00000678557.1:c.187G>T	ENSP00000502962.1:p.Ala63Ser
ENST00000678593.1:c.306G>T	ENSP00000503841.1:n.306G>T
ENST00000679286.1:c.181G>T	ENSP00000503168.1:p.Ala61Ser
ENST00000318471.4:c.301G>T	ENSP00000315680.3:p.Ala101Ser
ENST00000367756.8:c.301G>T	ENSP00000356730.4:p.Ala101Ser
ENST00000541292.5:c.301G>T	ENSP00000441004.1:p.Ala101Ser
NM_000288.3:c.301G>T	NP_000279.1:p.Ala101Ser
XM_005267019.3:c.187G>T	XP_005267076.1:p.Ala63Ser
XM_006715502.1:c.301G>T	XP_006715565.1:p.Ala101Ser
XM_011535900.1:c.301G>T	XP_011534202.1:p.Ala101Ser
XM_005267019.4:c.187G>T	XP_005267076.1:p.Ala63Ser
XM_006715502.2:c.301G>T	XP_006715565.1:p.Ala101Ser
XM_017010934.2:c.301G>T	XP_016866423.1:p.Ala101Ser
NM_000288.4:c.301G>T MANE Select	NP_000279.1:p.Ala101Ser