Canonical Allele Identifier: CA4017756

Gene: PEX7

Linked Data

• dbSNP Id: rs746546028
• ExAC: 6:137193364 C / T
• gnomAD v2: 6-137193364-C-T
• gnomAD v3: 6-136872226-C-T
• gnomAD v4: 6-136872226-C-T
• MyVariant Identifiers: chr6:g.137193364C>T (hg19) ; chr6:g.136872226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872226C>T , CM000668.2:g.136872226C>T	GRCh38
NC_000006.11:g.137193364C>T , CM000668.1:g.137193364C>T	GRCh37
NC_000006.10:g.137235057C>T	NCBI36
NG_008462.1:g.54647C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.776C>T MANE Select	ENSP00000315680.3:p.Ala259Val
ENST00000541292.6:c.*41C>T	ENSP00000441004.1:n.*41C>T
ENST00000678002.1:c.464C>T
ENST00000678557.1:c.662C>T	ENSP00000502962.1:p.Ala221Val
ENST00000678593.1:c.781C>T	ENSP00000503841.1:n.781C>T
ENST00000679286.1:c.656C>T	ENSP00000503168.1:p.Ala219Val
ENST00000318471.4:c.776C>T	ENSP00000315680.3:p.Ala259Val
NM_000288.3:c.776C>T	NP_000279.1:p.Ala259Val
XM_005267019.3:c.662C>T	XP_005267076.1:p.Ala221Val
XM_006715502.1:c.482C>T	XP_006715565.1:p.Ala161Val
XM_011535900.1:c.527-25916C>T	XP_011534202.1:n.527-25916C>T
XM_005267019.4:c.662C>T	XP_005267076.1:p.Ala221Val
XM_006715502.2:c.482C>T	XP_006715565.1:p.Ala161Val
XM_017010934.2:c.527-25916C>T	XP_016866423.1:n.527-25916C>T
NM_000288.4:c.776C>T MANE Select	NP_000279.1:p.Ala259Val