Canonical Allele Identifier: CA340784

Gene: PMP22

Linked Data

• ClinVar Variation Id: 8428
• ClinVar RCV Id: RCV000008940 ; RCV000685070
• dbSNP Id: rs104894617
• gnomAD v4: 17-15260681-A-G
• MyVariant Identifiers: chr17:g.15163998A>G (hg19) ; chr17:g.15260681A>G (hg38)
• PubMed: PMID:1303281 ; PMID:1564512 ; PMID:8492918 ; PMID:20301384

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15260681A>G , CM000679.2:g.15260681A>G	GRCh38
NC_000017.10:g.15163998A>G , CM000679.1:g.15163998A>G	GRCh37
NC_000017.9:g.15104723A>G	NCBI36
NG_007949.1:g.9647T>C , LRG_263:g.9647T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.47T>C MANE Select	ENSP00000308937.3:p.Leu16Pro
ENST00000395936.7:c.47T>C	ENSP00000379268.1:p.Leu16Pro
ENST00000395938.7:c.47T>C	ENSP00000379269.3:p.Leu16Pro
ENST00000426385.4:c.47T>C	ENSP00000409824.3:p.Leu16Pro
ENST00000471150.3:n.236T>C
ENST00000494511.7:c.-27+4473T>C	ENSP00000462782.2:n.-27+4473T>C
ENST00000580584.3:c.-126-1488T>C	ENSP00000464468.3:n.-126-1488T>C
ENST00000612492.5:c.47T>C	ENSP00000484631.1:p.Leu16Pro
ENST00000643451.2:c.47T>C	ENSP00000494628.1:p.Leu16Pro
ENST00000644020.1:c.47T>C	ENSP00000496522.1:p.Leu16Pro
ENST00000646419.2:c.47T>C	ENSP00000494871.1:p.Leu16Pro
ENST00000674651.1:c.47T>C	ENSP00000501727.1:p.Leu16Pro
ENST00000674673.1:c.47T>C	ENSP00000501804.1:p.Leu16Pro
ENST00000674707.1:c.-27+1748T>C	ENSP00000502250.1:n.-27+1748T>C
ENST00000674868.1:c.47T>C	ENSP00000502835.1:p.Leu16Pro
ENST00000674947.1:c.47T>C	ENSP00000501580.1:p.Leu16Pro
ENST00000675350.1:c.47T>C	ENSP00000501557.1:p.Leu16Pro
ENST00000675551.1:c.47T>C	ENSP00000501945.1:p.Leu16Pro
ENST00000675808.1:c.47T>C	ENSP00000502310.1:p.Leu16Pro
ENST00000675819.1:c.47T>C	ENSP00000502018.1:p.Leu16Pro
ENST00000675854.1:c.-126-1488T>C	ENSP00000502324.1:n.-126-1488T>C
ENST00000675950.1:c.47T>C	ENSP00000501546.1:p.Leu16Pro
ENST00000676161.1:c.47T>C	ENSP00000501766.1:p.Leu16Pro
ENST00000676221.1:c.47T>C	ENSP00000502601.1:p.Leu16Pro
ENST00000676329.1:c.47T>C	ENSP00000501698.1:p.Leu16Pro
ENST00000312280.7:c.47T>C	ENSP00000308937.3:p.Leu16Pro
ENST00000395936.5:c.47T>C	ENSP00000379268.1:p.Leu16Pro
ENST00000395938.6:c.47T>C	ENSP00000379269.2:p.Leu16Pro
ENST00000426385.3:c.47T>C	ENSP00000409824.3:p.Leu16Pro
ENST00000471150.2:n.236T>C
ENST00000494511.5:c.-2+4473T>C	ENSP00000462782.1:n.-2+4473T>C
ENST00000580497.1:n.88T>C
ENST00000580584.1:c.-101-1488T>C	ENSP00000464468.1:n.-101-1488T>C
ENST00000612492.4:c.47T>C	ENSP00000484631.1:p.Leu16Pro
NM_000304.3:c.47T>C	NP_000295.1:p.Leu16Pro
NM_001281455.1:c.47T>C	NP_001268384.1:p.Leu16Pro
NM_001281456.1:c.47T>C	NP_001268385.1:p.Leu16Pro
NM_153321.2:c.47T>C	NP_696996.1:p.Leu16Pro
NM_153322.2:c.47T>C	NP_696997.1:p.Leu16Pro
NR_104017.1:n.205-1488T>C
NR_104018.1:n.204+4473T>C
XM_011523943.1:c.47T>C	XP_011522245.1:p.Leu16Pro
NM_001330143.1:c.47T>C	NP_001317072.1:p.Leu16Pro
XM_024450806.1:c.47T>C	XP_024306574.1:p.Leu16Pro
NM_000304.4:c.47T>C MANE Select	NP_000295.1:p.Leu16Pro
NM_001281456.2:c.47T>C	NP_001268385.1:p.Leu16Pro
NM_001330143.2:c.47T>C	NP_001317072.1:p.Leu16Pro
NM_153321.3:c.47T>C	NP_696996.1:p.Leu16Pro
NM_153322.3:c.47T>C	NP_696997.1:p.Leu16Pro
NR_104017.2:n.174-1488T>C
NR_104018.2:n.173+4473T>C
NM_001281455.2:c.47T>C	NP_001268384.1:p.Leu16Pro