Canonical Allele Identifier: CA201624845

Gene: PMPCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136416589C>G , CM000671.2:g.136416589C>G	GRCh38
NC_000009.11:g.139311041C>G , CM000671.1:g.139311041C>G	GRCh37
NC_000009.10:g.138430862C>G	NCBI36
NG_046789.1:g.11017C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015160.3:c.633+198C>G MANE Select	NP_055975.1:n.633+198C>G
ENST00000371717.8:c.633+198C>G MANE Select	ENSP00000360782.3:n.633+198C>G
NM_001282944.1:c.240+198C>G	NP_001269873.1:n.240+198C>G
NM_001282944.2:c.240+198C>G	NP_001269873.1:n.240+198C>G
NM_001282946.1:c.333+198C>G	NP_001269875.1:n.333+198C>G
NM_001282946.2:c.333+198C>G	NP_001269875.1:n.333+198C>G
NM_015160.2:c.633+198C>G	NP_055975.1:n.633+198C>G
ENST00000371717.7:c.633+198C>G	ENSP00000360782.3:n.633+198C>G
ENST00000399219.7:c.240+198C>G	ENSP00000416702.2:n.240+198C>G
ENST00000444897.3:c.633+198C>G	ENSP00000408393.2:n.633+198C>G
ENST00000462616.1:n.523C>G
ENST00000612553.4:n.859C>G
ENST00000612553.5:n.859C>G
ENST00000620895.1:n.387+198C>G
ENST00000622209.4:n.757C>G
ENST00000706227.1:c.633+198C>G	ENSP00000516285.1:n.633+198C>G
ENST00000706228.1:c.633+198C>G	ENSP00000516286.1:n.633+198C>G
ENST00000706375.1:c.633+198C>G	ENSP00000516357.1:n.633+198C>G
ENST00000706376.1:c.633+198C>G	ENSP00000516358.1:n.633+198C>G
ENST00000706377.1:c.533-362C>G	ENSP00000516359.1:n.533-362C>G
ENST00000706378.1:n.859C>G
ENST00000706379.1:c.533-362C>G	ENSP00000516360.1:n.533-362C>G
ENST00000706380.1:c.633+198C>G	ENSP00000516361.1:n.633+198C>G
ENST00000706381.1:n.856C>G
ENST00000706382.1:n.856C>G
ENST00000706383.1:n.856C>G
ENST00000706384.1:c.*153+198C>G	ENSP00000516362.1:n.*153+198C>G
ENST00000706385.1:c.533-362C>G	ENSP00000516363.1:n.533-362C>G
ENST00000706386.1:c.633+198C>G	ENSP00000516364.1:n.633+198C>G
ENST00000706387.1:c.*97+198C>G	ENSP00000516365.1:n.*97+198C>G
ENST00000706388.1:c.633+198C>G	ENSP00000516366.1:n.633+198C>G
ENST00000706389.1:n.2506C>G
ENST00000706390.1:c.508+198C>G	ENSP00000516367.1:n.508+198C>G
XM_005266059.3:c.633+198C>G	XP_005266116.1:n.633+198C>G
XM_005266059.4:c.633+198C>G	XP_005266116.1:n.633+198C>G
XM_011518417.1:c.87+198C>G	XP_011516719.1:n.87+198C>G
XM_011518417.3:c.87+198C>G	XP_011516719.1:n.87+198C>G
XM_017014543.2:c.87+198C>G	XP_016870032.1:n.87+198C>G