Canonical Allele Identifier: CA4017543

Gene: PEX7

Linked Data

• dbSNP Id: rs374762520
• ExAC: 6:137147540 C / T
• gnomAD v2: 6-137147540-C-T
• gnomAD v3: 6-136826402-C-T
• gnomAD v4: 6-136826402-C-T
• MyVariant Identifiers: chr6:g.137147540C>T (hg19) ; chr6:g.136826402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826402C>T , CM000668.2:g.136826402C>T	GRCh38
NC_000006.11:g.137147540C>T , CM000668.1:g.137147540C>T	GRCh37
NC_000006.10:g.137189233C>T	NCBI36
NG_008462.1:g.8823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.272C>T MANE Select	ENSP00000315680.3:p.Ser91Leu
ENST00000541292.6:c.272C>T	ENSP00000441004.1:p.Ser91Leu
ENST00000678002.1:c.147C>T
ENST00000678557.1:c.158C>T	ENSP00000502962.1:p.Ser53Leu
ENST00000678593.1:c.277C>T	ENSP00000503841.1:n.277C>T
ENST00000679286.1:c.152C>T	ENSP00000503168.1:p.Ser51Leu
ENST00000318471.4:c.272C>T	ENSP00000315680.3:p.Ser91Leu
ENST00000367756.8:c.272C>T	ENSP00000356730.4:p.Ser91Leu
ENST00000541292.5:c.272C>T	ENSP00000441004.1:p.Ser91Leu
NM_000288.3:c.272C>T	NP_000279.1:p.Ser91Leu
XM_005267019.3:c.158C>T	XP_005267076.1:p.Ser53Leu
XM_006715502.1:c.272C>T	XP_006715565.1:p.Ser91Leu
XM_011535900.1:c.272C>T	XP_011534202.1:p.Ser91Leu
XM_005267019.4:c.158C>T	XP_005267076.1:p.Ser53Leu
XM_006715502.2:c.272C>T	XP_006715565.1:p.Ser91Leu
XM_017010934.2:c.272C>T	XP_016866423.1:p.Ser91Leu
NM_000288.4:c.272C>T MANE Select	NP_000279.1:p.Ser91Leu