Canonical Allele Identifier: CA375553937

Gene: PMPCA

Linked Data

• dbSNP Id: rs573267388
• gnomAD v2: 9-139310764-G-T
• gnomAD v3: 9-136416312-G-T
• gnomAD v4: 9-136416312-G-T
• MyVariant Identifiers: chr9:g.139310764G>T (hg19) ; chr9:g.136416312G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136416312G>T , CM000671.2:g.136416312G>T	GRCh38
NC_000009.11:g.139310764G>T , CM000671.1:g.139310764G>T	GRCh37
NC_000009.10:g.138430585G>T	NCBI36
NG_046789.1:g.10740G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000444897.3:c.554G>T	ENSP00000408393.2:p.Arg185Leu
ENST00000612553.5:n.582G>T
ENST00000706227.1:c.554G>T	ENSP00000516285.1:p.Arg185Leu
ENST00000706228.1:c.554G>T	ENSP00000516286.1:p.Arg185Leu
ENST00000706375.1:c.554G>T	ENSP00000516357.1:p.Arg185Leu
ENST00000706376.1:c.554G>T	ENSP00000516358.1:p.Arg185Leu
ENST00000706377.1:c.533-639G>T	ENSP00000516359.1:n.533-639G>T
ENST00000706378.1:n.582G>T
ENST00000706379.1:c.533-639G>T	ENSP00000516360.1:n.533-639G>T
ENST00000706380.1:c.554G>T	ENSP00000516361.1:p.Arg185Leu
ENST00000706381.1:n.579G>T
ENST00000706382.1:n.579G>T
ENST00000706383.1:n.579G>T
ENST00000706384.1:c.*74G>T	ENSP00000516362.1:n.*74G>T
ENST00000706385.1:c.533-639G>T	ENSP00000516363.1:n.533-639G>T
ENST00000706386.1:c.554G>T	ENSP00000516364.1:p.Arg185Leu
ENST00000706387.1:c.*18G>T	ENSP00000516365.1:n.*18G>T
ENST00000706388.1:c.554G>T	ENSP00000516366.1:p.Arg185Leu
ENST00000706389.1:n.2229G>T
ENST00000706390.1:c.429G>T	ENSP00000516367.1:n.429G>T
ENST00000371717.8:c.554G>T MANE Select	ENSP00000360782.3:p.Arg185Leu
ENST00000371717.7:c.554G>T	ENSP00000360782.3:p.Arg185Leu
ENST00000371720.5:n.470G>T
ENST00000399219.7:c.161G>T	ENSP00000416702.2:p.Arg54Leu
ENST00000462616.1:n.246G>T
ENST00000612553.4:n.582G>T
ENST00000620895.1:n.308G>T
ENST00000622209.4:n.480G>T
NM_001282944.1:c.161G>T	NP_001269873.1:p.Arg54Leu
NM_001282946.1:c.254G>T	NP_001269875.1:p.Arg85Leu
NM_015160.2:c.554G>T	NP_055975.1:p.Arg185Leu
XM_005266059.3:c.554G>T	XP_005266116.1:p.Arg185Leu
XM_011518417.1:c.8G>T	XP_011516719.1:p.Arg3Leu
XM_005266059.4:c.554G>T	XP_005266116.1:p.Arg185Leu
XM_011518417.3:c.8G>T	XP_011516719.1:p.Arg3Leu
XM_017014543.2:c.8G>T	XP_016870032.1:p.Arg3Leu
NM_015160.3:c.554G>T MANE Select	NP_055975.1:p.Arg185Leu
NM_001282944.2:c.161G>T	NP_001269873.1:p.Arg54Leu
NM_001282946.2:c.254G>T	NP_001269875.1:p.Arg85Leu