Canonical Allele Identifier: CA2546942285

Gene: MPZ

Linked Data

• gnomAD v4: 1-161305830-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305830C>A , CM000663.2:g.161305830C>A	GRCh38
NC_000001.10:g.161275620C>A , CM000663.1:g.161275620C>A	GRCh37
NC_000001.9:g.159542244C>A	NCBI36
NG_008055.1:g.9143G>T , LRG_256:g.9143G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.*46G>T	ENSP00000488104.2:n.*46G>T
ENST00000533357.5:c.*46G>T MANE Select	ENSP00000432943.1:n.*46G>T
ENST00000672287.2:c.*46G>T	ENSP00000499818.2:n.*46G>T
ENST00000672602.2:c.793G>T	ENSP00000500814.2:p.Ala265Ser
ENST00000674861.1:n.856G>T
ENST00000463290.5:c.*46G>T	ENSP00000431538.1:n.*46G>T
ENST00000476410.1:n.383G>T
ENST00000488271.1:n.231G>T
ENST00000491222.5:c.*46G>T	ENSP00000431441.1:n.*46G>T
ENST00000526189.2:c.456G>T
ENST00000533357.4:c.*46G>T	ENSP00000432943.1:n.*46G>T
NM_000530.6:c.*46G>T , LRG_256t1:c.*46G>T	NP_000521.2:n.*46G>T
NM_000530.7:c.*46G>T	NP_000521.2:n.*46G>T
NM_001315491.1:c.793G>T	NP_001302420.1:p.Ala265Ser
XM_017001321.2:c.675+278G>T	XP_016856810.1:n.675+278G>T
NM_000530.8:c.*46G>T MANE Select	NP_000521.2:n.*46G>T
NM_001315491.2:c.793G>T	NP_001302420.1:p.Ala265Ser