Canonical Allele Identifier: CA375550955

Gene: PMPCA

Linked Data

• MyVariant Identifiers: chr9:g.139305188T>A (hg19) ; chr9:g.136410736T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136410736T>A , CM000671.2:g.136410736T>A	GRCh38
NC_000009.11:g.139305188T>A , CM000671.1:g.139305188T>A	GRCh37
NC_000009.10:g.138425009T>A	NCBI36
NG_046789.1:g.5164T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000444897.3:c.68T>A	ENSP00000408393.2:p.Leu23Gln
ENST00000612553.5:n.96T>A
ENST00000706227.1:c.68T>A	ENSP00000516285.1:p.Leu23Gln
ENST00000706228.1:c.68T>A	ENSP00000516286.1:p.Leu23Gln
ENST00000706375.1:c.68T>A	ENSP00000516357.1:p.Leu23Gln
ENST00000706376.1:c.68T>A	ENSP00000516358.1:p.Leu23Gln
ENST00000706377.1:c.68T>A	ENSP00000516359.1:p.Leu23Gln
ENST00000706378.1:n.96T>A
ENST00000706379.1:c.68T>A	ENSP00000516360.1:p.Leu23Gln
ENST00000706380.1:c.68T>A	ENSP00000516361.1:p.Leu23Gln
ENST00000706381.1:n.93T>A
ENST00000706382.1:n.93T>A
ENST00000706383.1:n.93T>A
ENST00000706384.1:c.68T>A	ENSP00000516362.1:p.Leu23Gln
ENST00000706385.1:c.68T>A	ENSP00000516363.1:p.Leu23Gln
ENST00000706386.1:c.68T>A	ENSP00000516364.1:p.Leu23Gln
ENST00000706387.1:c.68T>A	ENSP00000516365.1:p.Leu23Gln
ENST00000706388.1:c.68T>A	ENSP00000516366.1:p.Leu23Gln
ENST00000706389.1:n.83T>A
ENST00000706390.1:c.68T>A	ENSP00000516367.1:p.Leu23Gln
ENST00000371717.8:c.68T>A MANE Select	ENSP00000360782.3:p.Leu23Gln
ENST00000371717.7:c.68T>A	ENSP00000360782.3:p.Leu23Gln
ENST00000371720.5:n.79T>A
ENST00000399219.7:c.-231T>A	ENSP00000416702.2:n.-231T>A
ENST00000612553.4:n.96T>A
ENST00000614402.4:n.63T>A
ENST00000619192.4:n.93T>A
ENST00000620412.4:n.79T>A
ENST00000622209.4:n.77T>A
NM_001282944.1:c.-231T>A	NP_001269873.1:n.-231T>A
NM_001282946.1:c.-231T>A	NP_001269875.1:n.-231T>A
NM_015160.2:c.68T>A	NP_055975.1:p.Leu23Gln
XM_005266059.3:c.68T>A	XP_005266116.1:p.Leu23Gln
XM_005266059.4:c.68T>A	XP_005266116.1:p.Leu23Gln
XM_017014543.2:c.-507T>A	XP_016870032.1:n.-507T>A
NM_015160.3:c.68T>A MANE Select	NP_055975.1:p.Leu23Gln
NM_001282944.2:c.-231T>A	NP_001269873.1:n.-231T>A
NM_001282946.2:c.-231T>A	NP_001269875.1:n.-231T>A