Canonical Allele Identifier: CA467717092

Gene: PMPCA

Linked Data

• gnomAD v4: 9-136410737-G-C
• MyVariant Identifiers: chr9:g.139305189G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136410737G>C , CM000671.2:g.136410737G>C	GRCh38
NC_000009.11:g.139305189G>C , CM000671.1:g.139305189G>C	GRCh37
NC_000009.10:g.138425010G>C	NCBI36
NG_046789.1:g.5165G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000444897.3:c.69G>C	ENSP00000408393.2:p.Leu23=
ENST00000612553.5:n.97G>C
ENST00000706227.1:c.69G>C	ENSP00000516285.1:p.Leu23=
ENST00000706228.1:c.69G>C	ENSP00000516286.1:p.Leu23=
ENST00000706375.1:c.69G>C	ENSP00000516357.1:p.Leu23=
ENST00000706376.1:c.69G>C	ENSP00000516358.1:p.Leu23=
ENST00000706377.1:c.69G>C	ENSP00000516359.1:p.Leu23=
ENST00000706378.1:n.97G>C
ENST00000706379.1:c.69G>C	ENSP00000516360.1:p.Leu23=
ENST00000706380.1:c.69G>C	ENSP00000516361.1:p.Leu23=
ENST00000706381.1:n.94G>C
ENST00000706382.1:n.94G>C
ENST00000706383.1:n.94G>C
ENST00000706384.1:c.69G>C	ENSP00000516362.1:p.Leu23=
ENST00000706385.1:c.69G>C	ENSP00000516363.1:p.Leu23=
ENST00000706386.1:c.69G>C	ENSP00000516364.1:p.Leu23=
ENST00000706387.1:c.69G>C	ENSP00000516365.1:p.Leu23=
ENST00000706388.1:c.69G>C	ENSP00000516366.1:p.Leu23=
ENST00000706389.1:n.84G>C
ENST00000706390.1:c.69G>C	ENSP00000516367.1:p.Leu23=
ENST00000371717.8:c.69G>C MANE Select	ENSP00000360782.3:p.Leu23=
ENST00000371717.7:c.69G>C	ENSP00000360782.3:p.Leu23=
ENST00000371720.5:n.80G>C
ENST00000399219.7:c.-230G>C	ENSP00000416702.2:n.-230G>C
ENST00000612553.4:n.97G>C
ENST00000614402.4:n.64G>C
ENST00000619192.4:n.94G>C
ENST00000620412.4:n.80G>C
ENST00000622209.4:n.78G>C
NM_001282944.1:c.-230G>C	NP_001269873.1:n.-230G>C
NM_001282946.1:c.-230G>C	NP_001269875.1:n.-230G>C
NM_015160.2:c.69G>C	NP_055975.1:p.Leu23=
XM_005266059.3:c.69G>C	XP_005266116.1:p.Leu23=
XM_005266059.4:c.69G>C	XP_005266116.1:p.Leu23=
XM_017014543.2:c.-506G>C	XP_016870032.1:n.-506G>C
NM_015160.3:c.69G>C MANE Select	NP_055975.1:p.Leu23=
NM_001282944.2:c.-230G>C	NP_001269873.1:n.-230G>C
NM_001282946.2:c.-230G>C	NP_001269875.1:n.-230G>C