Canonical Allele Identifier: CA368738284

Gene: PMPCB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103311832T>C , CM000669.2:g.103311832T>C	GRCh38
NC_000007.13:g.102952279T>C , CM000669.1:g.102952279T>C	GRCh37
NC_000007.12:g.102739515T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004279.3:c.1265T>C MANE Select	NP_004270.2:p.Ile422Thr
ENST00000249269.9:c.1265T>C MANE Select	ENSP00000249269.4:p.Ile422Thr
NM_004279.2:c.1265T>C	NP_004270.2:p.Ile422Thr
ENST00000249269.8:c.1265T>C	ENSP00000249269.4:p.Ile422Thr
ENST00000428154.5:c.1265T>C	ENSP00000390035.1:p.Ile422Thr
ENST00000443722.5:c.*790-375T>C	ENSP00000402859.1:n.*790-375T>C
ENST00000444457.5:c.*1291T>C	ENSP00000388934.1:n.*1291T>C
ENST00000453466.1:c.*900T>C	ENSP00000408682.1:n.*900T>C
ENST00000469560.1:n.1255T>C
ENST00000469560.2:n.2438T>C
ENST00000706437.1:c.1265T>C	ENSP00000516380.1:p.Ile422Thr
ENST00000706438.1:n.2438T>C
ENST00000706439.1:c.*478T>C	ENSP00000516381.1:n.*478T>C
ENST00000706440.1:c.*6T>C	ENSP00000516382.1:n.*6T>C
ENST00000706441.1:n.3657T>C
ENST00000706442.1:c.1265T>C	ENSP00000516383.1:p.Ile422Thr
ENST00000706443.1:c.*399T>C	ENSP00000516384.1:n.*399T>C
ENST00000706447.1:c.*406T>C	ENSP00000516385.1:n.*406T>C
ENST00000706448.1:c.*399T>C	ENSP00000516386.1:n.*399T>C
ENST00000706449.1:c.*6T>C	ENSP00000516387.1:n.*6T>C
ENST00000706450.1:c.1265T>C	ENSP00000516388.1:p.Ile422Thr
ENST00000706451.1:c.1265T>C	ENSP00000516389.1:p.Ile422Thr
ENST00000706452.1:c.*399T>C	ENSP00000516390.1:n.*399T>C
ENST00000706453.1:c.1265T>C	ENSP00000516391.1:p.Ile422Thr
ENST00000706454.1:c.1265T>C	ENSP00000516392.1:p.Ile422Thr
ENST00000706455.1:n.4824T>C
ENST00000706456.1:c.*399T>C	ENSP00000516393.1:n.*399T>C
ENST00000706457.1:c.*1178T>C	ENSP00000516394.1:n.*1178T>C
ENST00000706458.1:n.2003T>C
ENST00000706459.1:c.986T>C	ENSP00000516395.1:p.Ile329Thr
ENST00000706460.1:c.1492T>C	ENSP00000516396.1:n.1492T>C
ENST00000706462.1:n.1136T>C
ENST00000706463.1:n.960T>C
XM_005250717.2:c.1265T>C	XP_005250774.1:p.Ile422Thr
XM_005250717.4:c.1265T>C	XP_005250774.1:p.Ile422Thr
XM_006716181.2:c.1265T>C	XP_006716244.1:p.Ile422Thr
XM_006716181.4:c.1265T>C	XP_006716244.1:p.Ile422Thr
XR_242267.3:n.1185T>C
XR_242267.5:n.1177T>C