Canonical Allele Identifier: CA16041019
Gene: PEX7 HGNC NCBI

Linked Data

ClinVar Variation Id: 370873
ClinVar RCV Id: RCV000409011
dbSNP Id: rs778862698

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872196A>G , CM000668.2:g.136872196A>G GRCh38
NC_000006.11:g.137193334A>G , CM000668.1:g.137193334A>G GRCh37
NC_000006.10:g.137235027A>G NCBI36
NG_008462.1:g.54617A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.748-2A>G MANE Select ENSP00000315680.3:p.=
ENST00000541292.6:c.*13-2A>G ENSP00000441004.1:p.=
ENST00000678002.1:n.436-2A>G
ENST00000678557.1:c.634-2A>G ENSP00000502962.1:p.=
ENST00000678593.1:n.753-2A>G ENSP00000503841.1:p.=
ENST00000679286.1:c.628-2A>G ENSP00000503168.1:p.=
ENST00000318471.4:c.748-2A>G ENSP00000315680.3:p.=
NM_000288.3:c.748-2A>G NP_000279.1:p.=
XM_005267019.3:c.634-2A>G XP_005267076.1:p.=
XM_006715502.1:c.454-2A>G XP_006715565.1:p.=
XM_011535900.1:c.527-25946A>G XP_011534202.1:p.=
XM_005267019.4:c.634-2A>G XP_005267076.1:p.=
XM_006715502.2:c.454-2A>G XP_006715565.1:p.=
XM_017010934.2:c.527-25946A>G XP_016866423.1:p.=
NM_000288.4:c.748-2A>G MANE Select NP_000279.1:p.=