Canonical Allele Identifier: CA8403256

Gene: PMP22

Linked Data

• dbSNP Id: rs766390986
• ExAC: 17:15134028 T / C
• gnomAD v2: 17-15134028-T-C
• gnomAD v4: 17-15230711-T-C
• MyVariant Identifiers: chr17:g.15134028T>C (hg19) ; chr17:g.15230711T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230711T>C , CM000679.2:g.15230711T>C	GRCh38
NC_000017.10:g.15134028T>C , CM000679.1:g.15134028T>C	GRCh37
NC_000017.9:g.15074753T>C	NCBI36
NG_007949.1:g.39617A>G , LRG_263:g.39617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.*206A>G MANE Select	ENSP00000308937.3:n.*206A>G
ENST00000395936.7:c.*398A>G	ENSP00000379268.1:n.*398A>G
ENST00000395938.7:c.*24A>G	ENSP00000379269.3:n.*24A>G
ENST00000494511.7:c.*206A>G	ENSP00000462782.2:n.*206A>G
ENST00000580584.3:c.*206A>G	ENSP00000464468.3:n.*206A>G
ENST00000612492.5:c.*206A>G	ENSP00000484631.1:n.*206A>G
ENST00000643451.2:c.*544A>G	ENSP00000494628.1:n.*544A>G
ENST00000644020.1:c.*398A>G	ENSP00000496522.1:n.*398A>G
ENST00000646419.2:c.*398A>G	ENSP00000494871.1:n.*398A>G
ENST00000674651.1:c.*206A>G	ENSP00000501727.1:n.*206A>G
ENST00000674673.1:c.*206A>G	ENSP00000501804.1:n.*206A>G
ENST00000674707.1:c.*206A>G	ENSP00000502250.1:n.*206A>G
ENST00000674871.1:n.705A>G
ENST00000674947.1:c.*24A>G	ENSP00000501580.1:n.*24A>G
ENST00000675197.1:n.669A>G
ENST00000675551.1:c.*358A>G	ENSP00000501945.1:n.*358A>G
ENST00000675808.1:c.*206A>G	ENSP00000502310.1:n.*206A>G
ENST00000675819.1:c.*206A>G	ENSP00000502018.1:n.*206A>G
ENST00000675854.1:c.*206A>G	ENSP00000502324.1:n.*206A>G
ENST00000675950.1:c.*206A>G	ENSP00000501546.1:n.*206A>G
ENST00000676002.1:n.682A>G
ENST00000676161.1:c.*206A>G	ENSP00000501766.1:n.*206A>G
ENST00000676221.1:c.*206A>G	ENSP00000502601.1:n.*206A>G
ENST00000676329.1:c.*206A>G	ENSP00000501698.1:n.*206A>G
ENST00000312280.7:c.*206A>G	ENSP00000308937.3:n.*206A>G
ENST00000395938.6:c.*206A>G	ENSP00000379269.2:n.*206A>G
ENST00000494511.5:c.*24A>G	ENSP00000462782.1:n.*24A>G
ENST00000612492.4:c.*206A>G	ENSP00000484631.1:n.*206A>G
NM_000304.3:c.*206A>G	NP_000295.1:n.*206A>G
NM_001281455.1:c.*206A>G	NP_001268384.1:n.*206A>G
NM_001281456.1:c.*206A>G	NP_001268385.1:n.*206A>G
NM_153321.2:c.*206A>G	NP_696996.1:n.*206A>G
NM_153322.2:c.*206A>G	NP_696997.1:n.*206A>G
NR_104017.1:n.815A>G
NR_104018.1:n.715A>G
NM_000304.4:c.*206A>G MANE Select	NP_000295.1:n.*206A>G
NM_001281456.2:c.*206A>G	NP_001268385.1:n.*206A>G
NM_153321.3:c.*206A>G	NP_696996.1:n.*206A>G
NM_153322.3:c.*206A>G	NP_696997.1:n.*206A>G
NR_104017.2:n.784A>G
NR_104018.2:n.684A>G
NM_001281455.2:c.*206A>G	NP_001268384.1:n.*206A>G