Canonical Allele Identifier: CA148197909

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1198945
• ClinVar RCV Id: RCV001563275
• dbSNP Id: rs113036986
• gnomAD v2: 6-137187668-G-T
• gnomAD v3: 6-136866530-G-T
• gnomAD v4: 6-136866530-G-T
• MyVariant Identifiers: chr6:g.137187668G>T (hg19) ; chr6:g.136866530G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866530G>T , CM000668.2:g.136866530G>T	GRCh38
NC_000006.11:g.137187668G>T , CM000668.1:g.137187668G>T	GRCh37
NC_000006.10:g.137229361G>T	NCBI36
NG_008462.1:g.48951G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.527-97G>T MANE Select	ENSP00000315680.3:n.527-97G>T
ENST00000541292.6:c.527-97G>T	ENSP00000441004.1:n.527-97G>T
ENST00000678002.1:c.215-97G>T
ENST00000678557.1:c.413-97G>T	ENSP00000502962.1:n.413-97G>T
ENST00000678593.1:c.532-97G>T	ENSP00000503841.1:n.532-97G>T
ENST00000679286.1:c.407-97G>T	ENSP00000503168.1:n.407-97G>T
ENST00000318471.4:c.527-97G>T	ENSP00000315680.3:n.527-97G>T
ENST00000541292.5:c.527-97G>T	ENSP00000441004.1:n.527-97G>T
NM_000288.3:c.527-97G>T	NP_000279.1:n.527-97G>T
XM_005267019.3:c.413-97G>T	XP_005267076.1:n.413-97G>T
XM_006715502.1:c.340-3360G>T	XP_006715565.1:n.340-3360G>T
XM_011535900.1:c.526+20349G>T	XP_011534202.1:n.526+20349G>T
XM_005267019.4:c.413-97G>T	XP_005267076.1:n.413-97G>T
XM_006715502.2:c.340-3360G>T	XP_006715565.1:n.340-3360G>T
XM_017010934.2:c.526+20349G>T	XP_016866423.1:n.526+20349G>T
NM_000288.4:c.527-97G>T MANE Select	NP_000279.1:n.527-97G>T