Canonical Allele Identifier: CA1210052

Gene: MPZ

Linked Data

• dbSNP Id: rs375677138
• ExAC: 1:161275657 C / A
• gnomAD v2: 1-161275657-C-A
• gnomAD v3: 1-161305867-C-A
• gnomAD v4: 1-161305867-C-A
• MyVariant Identifiers: chr1:g.161275657C>A (hg19) ; chr1:g.161305867C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305867C>A , CM000663.2:g.161305867C>A	GRCh38
NC_000001.10:g.161275657C>A , CM000663.1:g.161275657C>A	GRCh37
NC_000001.9:g.159542281C>A	NCBI36
NG_008055.1:g.9106G>T , LRG_256:g.9106G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.*9G>T	ENSP00000488104.2:n.*9G>T
ENST00000533357.5:c.*9G>T MANE Select	ENSP00000432943.1:n.*9G>T
ENST00000672287.2:c.*9G>T	ENSP00000499818.2:n.*9G>T
ENST00000672602.2:c.756G>T	ENSP00000500814.2:p.Ala252=
ENST00000674861.1:n.819G>T
ENST00000463290.5:c.*9G>T	ENSP00000431538.1:n.*9G>T
ENST00000476410.1:n.346G>T
ENST00000488271.1:n.194G>T
ENST00000491222.5:c.*9G>T	ENSP00000431441.1:n.*9G>T
ENST00000526189.2:c.419G>T
ENST00000533357.4:c.*9G>T	ENSP00000432943.1:n.*9G>T
NM_000530.6:c.*9G>T , LRG_256t1:c.*9G>T	NP_000521.2:n.*9G>T
NM_000530.7:c.*9G>T	NP_000521.2:n.*9G>T
NM_001315491.1:c.756G>T	NP_001302420.1:p.Ala252=
XM_017001321.2:c.675+241G>T	XP_016856810.1:n.675+241G>T
NM_000530.8:c.*9G>T MANE Select	NP_000521.2:n.*9G>T
NM_001315491.2:c.756G>T	NP_001302420.1:p.Ala252=