Canonical Allele Identifier: CA254388

Gene: PMP22

Linked Data

• ClinVar Variation Id: 8443
• ClinVar RCV Id: RCV000008956 ; RCV001173915 ; RCV002288476 ; RCV003581556
• dbSNP Id: rs104894623
• MyVariant Identifiers: chr17:g.15142908C>T (hg19) ; chr17:g.15239591C>T (hg38)
• PubMed: PMID:12796555

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15239591C>T , CM000679.2:g.15239591C>T	GRCh38
NC_000017.10:g.15142908C>T , CM000679.1:g.15142908C>T	GRCh37
NC_000017.9:g.15083633C>T	NCBI36
NG_007949.1:g.30737G>A , LRG_263:g.30737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.199G>A MANE Select	ENSP00000308937.3:p.Ala67Thr
ENST00000395936.7:c.199G>A	ENSP00000379268.1:p.Ala67Thr
ENST00000395938.7:c.188G>A	ENSP00000379269.3:p.Gly63Asp
ENST00000426385.4:c.199G>A	ENSP00000409824.3:p.Ala67Thr
ENST00000494511.7:c.-6G>A	ENSP00000462782.2:n.-6G>A
ENST00000580584.3:c.-6G>A	ENSP00000464468.3:n.-6G>A
ENST00000612492.5:c.199G>A	ENSP00000484631.1:p.Ala67Thr
ENST00000643451.2:c.199G>A	ENSP00000494628.1:p.Ala67Thr
ENST00000644020.1:c.199G>A	ENSP00000496522.1:p.Ala67Thr
ENST00000646419.2:c.199G>A	ENSP00000494871.1:p.Ala67Thr
ENST00000674651.1:c.199G>A	ENSP00000501727.1:p.Ala67Thr
ENST00000674673.1:c.199G>A	ENSP00000501804.1:p.Ala67Thr
ENST00000674707.1:c.-6G>A	ENSP00000502250.1:n.-6G>A
ENST00000674868.1:c.199G>A	ENSP00000502835.1:p.Ala67Thr
ENST00000674871.1:n.215G>A
ENST00000674947.1:c.188G>A	ENSP00000501580.1:p.Gly63Asp
ENST00000675197.1:n.179G>A
ENST00000675350.1:c.199G>A	ENSP00000501557.1:p.Ala67Thr
ENST00000675551.1:c.199G>A	ENSP00000501945.1:p.Ala67Thr
ENST00000675808.1:c.199G>A	ENSP00000502310.1:p.Ala67Thr
ENST00000675819.1:c.199G>A	ENSP00000502018.1:p.Ala67Thr
ENST00000675854.1:c.-6G>A	ENSP00000502324.1:n.-6G>A
ENST00000675950.1:c.199G>A	ENSP00000501546.1:p.Ala67Thr
ENST00000676161.1:c.179-8511G>A	ENSP00000501766.1:n.179-8511G>A
ENST00000676221.1:c.199G>A	ENSP00000502601.1:p.Ala67Thr
ENST00000676329.1:c.301G>A	ENSP00000501698.1:p.Ala101Thr
ENST00000312280.7:c.199G>A	ENSP00000308937.3:p.Ala67Thr
ENST00000395936.5:c.199G>A	ENSP00000379268.1:p.Ala67Thr
ENST00000395938.6:c.199G>A	ENSP00000379269.2:p.Ala67Thr
ENST00000426385.3:c.199G>A	ENSP00000409824.3:p.Ala67Thr
ENST00000494511.5:c.20G>A	ENSP00000462782.1:p.Gly7Asp
ENST00000580584.1:c.20G>A	ENSP00000464468.1:p.Gly7Asp
ENST00000612492.4:c.199G>A	ENSP00000484631.1:p.Ala67Thr
NM_000304.3:c.199G>A	NP_000295.1:p.Ala67Thr
NM_001281455.1:c.199G>A	NP_001268384.1:p.Ala67Thr
NM_001281456.1:c.199G>A	NP_001268385.1:p.Ala67Thr
NM_153321.2:c.199G>A	NP_696996.1:p.Ala67Thr
NM_153322.2:c.199G>A	NP_696997.1:p.Ala67Thr
NR_104017.1:n.325G>A
NR_104018.1:n.225G>A
XM_011523943.1:c.199G>A	XP_011522245.1:p.Ala67Thr
NM_001330143.1:c.199G>A	NP_001317072.1:p.Ala67Thr
XM_024450806.1:c.199G>A	XP_024306574.1:p.Ala67Thr
NM_000304.4:c.199G>A MANE Select	NP_000295.1:p.Ala67Thr
NM_001281456.2:c.199G>A	NP_001268385.1:p.Ala67Thr
NM_001330143.2:c.199G>A	NP_001317072.1:p.Ala67Thr
NM_153321.3:c.199G>A	NP_696996.1:p.Ala67Thr
NM_153322.3:c.199G>A	NP_696997.1:p.Ala67Thr
NR_104017.2:n.294G>A
NR_104018.2:n.194G>A
NM_001281455.2:c.199G>A	NP_001268384.1:p.Ala67Thr