Canonical Allele Identifier: CA16041010

Gene: PEX7

Linked Data

• ClinVar Variation Id: 370746
• ClinVar RCV Id: RCV000411754
• dbSNP Id: rs1057516737
• MyVariant Identifiers: chr6:g.137143884C>G (hg19) ; chr6:g.136822746C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822746C>G , CM000668.2:g.136822746C>G	GRCh38
NC_000006.11:g.137143884C>G , CM000668.1:g.137143884C>G	GRCh37
NC_000006.10:g.137185577C>G	NCBI36
NG_008462.1:g.5167C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.81C>G MANE Select	ENSP00000315680.3:p.Tyr27Ter
ENST00000541292.6:c.81C>G	ENSP00000441004.1:p.Tyr27Ter
ENST00000678593.1:c.81C>G	ENSP00000503841.1:p.Tyr27Ter
ENST00000318471.4:c.81C>G	ENSP00000315680.3:p.Tyr27Ter
ENST00000367756.8:c.81C>G	ENSP00000356730.4:p.Tyr27Ter
ENST00000541292.5:c.81C>G	ENSP00000441004.1:p.Tyr27Ter
NM_000288.3:c.81C>G	NP_000279.1:p.Tyr27Ter
XM_006715502.1:c.81C>G	XP_006715565.1:p.Tyr27Ter
XM_011535900.1:c.81C>G	XP_011534202.1:p.Tyr27Ter
XM_006715502.2:c.81C>G	XP_006715565.1:p.Tyr27Ter
XM_017010934.2:c.81C>G	XP_016866423.1:p.Tyr27Ter
NM_000288.4:c.81C>G MANE Select	NP_000279.1:p.Tyr27Ter