Canonical Allele Identifier: CA726415252

Gene: PMP22

Linked Data

• dbSNP Id: rs1279568016
• gnomAD v3: 17-15260893-G-C
• gnomAD v4: 17-15260893-G-C
• MyVariant Identifiers: chr17:g.15164210G>C (hg19) ; chr17:g.15260893G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15260893G>C , CM000679.2:g.15260893G>C	GRCh38
NC_000017.10:g.15164210G>C , CM000679.1:g.15164210G>C	GRCh37
NC_000017.9:g.15104935G>C	NCBI36
NG_007949.1:g.9435C>G , LRG_263:g.9435C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.-34-132C>G MANE Select	ENSP00000308937.3:n.-34-132C>G
ENST00000395936.7:c.-34-132C>G	ENSP00000379268.1:n.-34-132C>G
ENST00000395938.7:c.-34-132C>G	ENSP00000379269.3:n.-34-132C>G
ENST00000426385.4:c.-34-132C>G	ENSP00000409824.3:n.-34-132C>G
ENST00000471150.3:n.156-132C>G
ENST00000494511.7:c.-27+4261C>G	ENSP00000462782.2:n.-27+4261C>G
ENST00000580584.3:c.-126-1700C>G	ENSP00000464468.3:n.-126-1700C>G
ENST00000612492.5:c.-30-136C>G	ENSP00000484631.1:n.-30-136C>G
ENST00000643451.2:c.-34-132C>G	ENSP00000494628.1:n.-34-132C>G
ENST00000646419.2:c.-34-132C>G	ENSP00000494871.1:n.-34-132C>G
ENST00000674651.1:c.-34-132C>G	ENSP00000501727.1:n.-34-132C>G
ENST00000674673.1:c.-34-132C>G	ENSP00000501804.1:n.-34-132C>G
ENST00000674707.1:c.-27+1536C>G	ENSP00000502250.1:n.-27+1536C>G
ENST00000674868.1:c.-34-132C>G	ENSP00000502835.1:n.-34-132C>G
ENST00000675350.1:c.-34-132C>G	ENSP00000501557.1:n.-34-132C>G
ENST00000675808.1:c.-166C>G	ENSP00000502310.1:n.-166C>G
ENST00000675819.1:c.-34-132C>G	ENSP00000502018.1:n.-34-132C>G
ENST00000675854.1:c.-127+1536C>G	ENSP00000502324.1:n.-127+1536C>G
ENST00000675950.1:c.-34-132C>G	ENSP00000501546.1:n.-34-132C>G
ENST00000676161.1:c.-34-132C>G	ENSP00000501766.1:n.-34-132C>G
ENST00000676221.1:c.-30-136C>G	ENSP00000502601.1:n.-30-136C>G
ENST00000312280.7:c.-34-132C>G	ENSP00000308937.3:n.-34-132C>G
ENST00000395936.5:c.-34-132C>G	ENSP00000379268.1:n.-34-132C>G
ENST00000395938.6:c.-34-132C>G	ENSP00000379269.2:n.-34-132C>G
ENST00000426385.3:c.-34-132C>G	ENSP00000409824.3:n.-34-132C>G
ENST00000471150.2:n.156-132C>G
ENST00000494511.5:c.-2+4261C>G	ENSP00000462782.1:n.-2+4261C>G
ENST00000580584.1:c.-101-1700C>G	ENSP00000464468.1:n.-101-1700C>G
ENST00000612492.4:c.-34-132C>G	ENSP00000484631.1:n.-34-132C>G
NM_000304.3:c.-34-132C>G	NP_000295.1:n.-34-132C>G
NM_001281455.1:c.-34-132C>G	NP_001268384.1:n.-34-132C>G
NM_001281456.1:c.-30-136C>G	NP_001268385.1:n.-30-136C>G
NM_153321.2:c.-34-132C>G	NP_696996.1:n.-34-132C>G
NR_104017.1:n.205-1700C>G
NR_104018.1:n.204+4261C>G
XM_011523943.1:c.-34-132C>G	XP_011522245.1:n.-34-132C>G
NM_001330143.1:c.-34-132C>G	NP_001317072.1:n.-34-132C>G
XM_024450806.1:c.-34-132C>G	XP_024306574.1:n.-34-132C>G
NM_000304.4:c.-34-132C>G MANE Select	NP_000295.1:n.-34-132C>G
NM_001281456.2:c.-30-136C>G	NP_001268385.1:n.-30-136C>G
NM_001330143.2:c.-34-132C>G	NP_001317072.1:n.-34-132C>G
NM_153321.3:c.-34-132C>G	NP_696996.1:n.-34-132C>G
NR_104017.2:n.174-1700C>G
NR_104018.2:n.173+4261C>G
NM_001281455.2:c.-34-132C>G	NP_001268384.1:n.-34-132C>G