Canonical Allele Identifier: CA351561
Community Standard Title: NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu)
Gene: PMPCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136412502C>T , CM000671.2:g.136412502C>T GRCh38
NC_000009.11:g.139306954C>T , CM000671.1:g.139306954C>T GRCh37
NC_000009.10:g.138426775C>T NCBI36
NG_046789.1:g.6930C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015160.3:c.287C>T MANE Select NP_055975.1:p.Ser96Leu
ENST00000371717.8:c.287C>T MANE Select ENSP00000360782.3:p.Ser96Leu
NM_001282944.1:c.-12C>T NP_001269873.1:n.-12C>T
NM_001282944.2:c.-12C>T NP_001269873.1:n.-12C>T
NM_001282946.1:c.-12C>T NP_001269875.1:n.-12C>T
NM_001282946.2:c.-12C>T NP_001269875.1:n.-12C>T
NM_015160.2:c.287C>T NP_055975.1:p.Ser96Leu
ENST00000371717.7:c.287C>T ENSP00000360782.3:p.Ser96Leu
ENST00000371720.5:n.298C>T
ENST00000399219.7:c.-12C>T ENSP00000416702.2:n.-12C>T
ENST00000444897.3:c.287C>T ENSP00000408393.2:p.Ser96Leu
ENST00000610649.4:n.504C>T
ENST00000612553.4:n.315C>T
ENST00000612553.5:n.315C>T
ENST00000614402.4:n.282C>T
ENST00000619192.4:n.312C>T
ENST00000620412.4:n.588C>T
ENST00000620895.1:n.41C>T
ENST00000622209.4:n.296C>T
ENST00000706227.1:c.287C>T ENSP00000516285.1:p.Ser96Leu
ENST00000706228.1:c.287C>T ENSP00000516286.1:p.Ser96Leu
ENST00000706375.1:c.287C>T ENSP00000516357.1:p.Ser96Leu
ENST00000706376.1:c.287C>T ENSP00000516358.1:p.Ser96Leu
ENST00000706377.1:c.287C>T ENSP00000516359.1:p.Ser96Leu
ENST00000706378.1:n.315C>T
ENST00000706379.1:c.287C>T ENSP00000516360.1:p.Ser96Leu
ENST00000706380.1:c.287C>T ENSP00000516361.1:p.Ser96Leu
ENST00000706381.1:n.312C>T
ENST00000706382.1:n.312C>T
ENST00000706383.1:n.312C>T
ENST00000706384.1:c.287C>T ENSP00000516362.1:p.Ser96Leu
ENST00000706385.1:c.287C>T ENSP00000516363.1:p.Ser96Leu
ENST00000706386.1:c.287C>T ENSP00000516364.1:p.Ser96Leu
ENST00000706387.1:c.287C>T ENSP00000516365.1:p.Ser96Leu
ENST00000706388.1:c.287C>T ENSP00000516366.1:p.Ser96Leu
ENST00000706389.1:n.302C>T
ENST00000706390.1:c.287C>T ENSP00000516367.1:p.Ser96Leu
XM_005266059.3:c.287C>T XP_005266116.1:p.Ser96Leu
XM_005266059.4:c.287C>T XP_005266116.1:p.Ser96Leu
XM_017014543.2:c.-288C>T XP_016870032.1:n.-288C>T