Canonical Allele Identifier: CA365764400

Gene: PEX7

Linked Data

• gnomAD v3: 6-136872205-C-T
• gnomAD v4: 6-136872205-C-T
• MyVariant Identifiers: chr6:g.137193343C>T (hg19) ; chr6:g.136872205C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872205C>T , CM000668.2:g.136872205C>T	GRCh38
NC_000006.11:g.137193343C>T , CM000668.1:g.137193343C>T	GRCh37
NC_000006.10:g.137235036C>T	NCBI36
NG_008462.1:g.54626C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.755C>T MANE Select	ENSP00000315680.3:p.Pro252Leu
ENST00000541292.6:c.*20C>T	ENSP00000441004.1:n.*20C>T
ENST00000678002.1:c.443C>T
ENST00000678557.1:c.641C>T	ENSP00000502962.1:p.Pro214Leu
ENST00000678593.1:c.760C>T	ENSP00000503841.1:n.760C>T
ENST00000679286.1:c.635C>T	ENSP00000503168.1:p.Pro212Leu
ENST00000318471.4:c.755C>T	ENSP00000315680.3:p.Pro252Leu
NM_000288.3:c.755C>T	NP_000279.1:p.Pro252Leu
XM_005267019.3:c.641C>T	XP_005267076.1:p.Pro214Leu
XM_006715502.1:c.461C>T	XP_006715565.1:p.Pro154Leu
XM_011535900.1:c.527-25937C>T	XP_011534202.1:n.527-25937C>T
XM_005267019.4:c.641C>T	XP_005267076.1:p.Pro214Leu
XM_006715502.2:c.461C>T	XP_006715565.1:p.Pro154Leu
XM_017010934.2:c.527-25937C>T	XP_016866423.1:n.527-25937C>T
NM_000288.4:c.755C>T MANE Select	NP_000279.1:p.Pro252Leu