Canonical Allele Identifier: CA8403298

Gene: PMP22

Linked Data

• ClinVar Variation Id: 2722128
• ClinVar RCV Id: RCV003581085
• dbSNP Id: rs533618640
• ExAC: 17:15134279 G / A
• gnomAD v2: 17-15134279-G-A
• gnomAD v3: 17-15230962-G-A
• gnomAD v4: 17-15230962-G-A
• COSMIC: COSM2738325
• MyVariant Identifiers: chr17:g.15134279G>A (hg19) ; chr17:g.15230962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230962G>A , CM000679.2:g.15230962G>A	GRCh38
NC_000017.10:g.15134279G>A , CM000679.1:g.15134279G>A	GRCh37
NC_000017.9:g.15075004G>A	NCBI36
NG_007949.1:g.39366C>T , LRG_263:g.39366C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000312280.9:c.438C>T MANE Select	ENSP00000308937.3:p.Ala146=
ENST00000395936.7:c.*147C>T	ENSP00000379268.1:n.*147C>T
ENST00000395938.7:c.427C>T	ENSP00000379269.3:p.Pro143Ser
ENST00000494511.7:c.234C>T	ENSP00000462782.2:p.Ala78=
ENST00000580584.3:c.234C>T	ENSP00000464468.3:p.Ala78=
ENST00000612492.5:c.438C>T	ENSP00000484631.1:p.Ala146=
ENST00000643451.2:c.*293C>T	ENSP00000494628.1:n.*293C>T
ENST00000644020.1:c.*147C>T	ENSP00000496522.1:n.*147C>T
ENST00000646419.2:c.*147C>T	ENSP00000494871.1:n.*147C>T
ENST00000674651.1:c.438C>T	ENSP00000501727.1:p.Ala146=
ENST00000674673.1:c.438C>T	ENSP00000501804.1:p.Ala146=
ENST00000674707.1:c.234C>T	ENSP00000502250.1:p.Ala78=
ENST00000674868.1:c.438C>T	ENSP00000502835.1:p.Ala146=
ENST00000674871.1:n.454C>T
ENST00000674947.1:c.427C>T	ENSP00000501580.1:p.Pro143Ser
ENST00000675197.1:n.418C>T
ENST00000675350.1:c.438C>T	ENSP00000501557.1:p.Ala146=
ENST00000675551.1:c.*107C>T	ENSP00000501945.1:n.*107C>T
ENST00000675808.1:c.438C>T	ENSP00000502310.1:p.Ala146=
ENST00000675819.1:c.438C>T	ENSP00000502018.1:p.Ala146=
ENST00000675854.1:c.234C>T	ENSP00000502324.1:p.Ala78=
ENST00000675950.1:c.438C>T	ENSP00000501546.1:p.Ala146=
ENST00000676002.1:n.431C>T
ENST00000676161.1:c.297C>T	ENSP00000501766.1:p.Ala99=
ENST00000676221.1:c.438C>T	ENSP00000502601.1:p.Ala146=
ENST00000676329.1:c.540C>T	ENSP00000501698.1:p.Ala180=
ENST00000312280.7:c.438C>T	ENSP00000308937.3:p.Ala146=
ENST00000395936.5:c.*147C>T	ENSP00000379268.1:n.*147C>T
ENST00000395938.6:c.438C>T	ENSP00000379269.2:p.Ala146=
ENST00000494511.5:c.259C>T	ENSP00000462782.1:p.Pro87Ser
ENST00000612492.4:c.438C>T	ENSP00000484631.1:p.Ala146=
NM_000304.3:c.438C>T	NP_000295.1:p.Ala146=
NM_001281455.1:c.438C>T	NP_001268384.1:p.Ala146=
NM_001281456.1:c.438C>T	NP_001268385.1:p.Ala146=
NM_153321.2:c.438C>T	NP_696996.1:p.Ala146=
NM_153322.2:c.438C>T	NP_696997.1:p.Ala146=
NR_104017.1:n.564C>T
NR_104018.1:n.464C>T
NM_000304.4:c.438C>T MANE Select	NP_000295.1:p.Ala146=
NM_001281456.2:c.438C>T	NP_001268385.1:p.Ala146=
NM_153321.3:c.438C>T	NP_696996.1:p.Ala146=
NM_153322.3:c.438C>T	NP_696997.1:p.Ala146=
NR_104017.2:n.533C>T
NR_104018.2:n.433C>T
NM_001281455.2:c.438C>T	NP_001268384.1:p.Ala146=