Canonical Allele Identifier: CA288864475

Gene: PMP22

Linked Data

• dbSNP Id: rs1023311535
• gnomAD v3: 17-15230665-G-A
• gnomAD v4: 17-15230665-G-A
• MyVariant Identifiers: chr17:g.15133982G>A (hg19) ; chr17:g.15230665G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230665G>A , CM000679.2:g.15230665G>A	GRCh38
NC_000017.10:g.15133982G>A , CM000679.1:g.15133982G>A	GRCh37
NC_000017.9:g.15074707G>A	NCBI36
NG_007949.1:g.39663C>T , LRG_263:g.39663C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000312280.9:c.*252C>T MANE Select	ENSP00000308937.3:n.*252C>T
ENST00000395936.7:c.*444C>T	ENSP00000379268.1:n.*444C>T
ENST00000395938.7:c.*70C>T	ENSP00000379269.3:n.*70C>T
ENST00000494511.7:c.*252C>T	ENSP00000462782.2:n.*252C>T
ENST00000580584.3:c.*252C>T	ENSP00000464468.3:n.*252C>T
ENST00000612492.5:c.*252C>T	ENSP00000484631.1:n.*252C>T
ENST00000643451.2:c.*590C>T	ENSP00000494628.1:n.*590C>T
ENST00000644020.1:c.*444C>T	ENSP00000496522.1:n.*444C>T
ENST00000646419.2:c.*444C>T	ENSP00000494871.1:n.*444C>T
ENST00000674651.1:c.*252C>T	ENSP00000501727.1:n.*252C>T
ENST00000674673.1:c.*252C>T	ENSP00000501804.1:n.*252C>T
ENST00000674707.1:c.*252C>T	ENSP00000502250.1:n.*252C>T
ENST00000674871.1:n.751C>T
ENST00000674947.1:c.*70C>T	ENSP00000501580.1:n.*70C>T
ENST00000675197.1:n.715C>T
ENST00000675551.1:c.*404C>T	ENSP00000501945.1:n.*404C>T
ENST00000675808.1:c.*252C>T	ENSP00000502310.1:n.*252C>T
ENST00000675819.1:c.*252C>T	ENSP00000502018.1:n.*252C>T
ENST00000675854.1:c.*252C>T	ENSP00000502324.1:n.*252C>T
ENST00000675950.1:c.*252C>T	ENSP00000501546.1:n.*252C>T
ENST00000676002.1:n.728C>T
ENST00000676161.1:c.*252C>T	ENSP00000501766.1:n.*252C>T
ENST00000676221.1:c.*252C>T	ENSP00000502601.1:n.*252C>T
ENST00000676329.1:c.*252C>T	ENSP00000501698.1:n.*252C>T
ENST00000312280.7:c.*252C>T	ENSP00000308937.3:n.*252C>T
ENST00000395938.6:c.*252C>T	ENSP00000379269.2:n.*252C>T
ENST00000494511.5:c.*70C>T	ENSP00000462782.1:n.*70C>T
ENST00000612492.4:c.*252C>T	ENSP00000484631.1:n.*252C>T
NM_000304.3:c.*252C>T	NP_000295.1:n.*252C>T
NM_001281455.1:c.*252C>T	NP_001268384.1:n.*252C>T
NM_001281456.1:c.*252C>T	NP_001268385.1:n.*252C>T
NM_153321.2:c.*252C>T	NP_696996.1:n.*252C>T
NM_153322.2:c.*252C>T	NP_696997.1:n.*252C>T
NR_104017.1:n.861C>T
NR_104018.1:n.761C>T
NM_000304.4:c.*252C>T MANE Select	NP_000295.1:n.*252C>T
NM_001281456.2:c.*252C>T	NP_001268385.1:n.*252C>T
NM_153321.3:c.*252C>T	NP_696996.1:n.*252C>T
NM_153322.3:c.*252C>T	NP_696997.1:n.*252C>T
NR_104017.2:n.830C>T
NR_104018.2:n.730C>T
NM_001281455.2:c.*252C>T	NP_001268384.1:n.*252C>T