Canonical Allele Identifier: CA421405139

Gene: MPZ

Linked Data

• dbSNP Id: rs1064797124
• gnomAD v3: 1-161306790-A-G
• gnomAD v4: 1-161306790-A-G
• MyVariant Identifiers: chr1:g.161276580A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306790A>G , CM000663.2:g.161306790A>G	GRCh38
NC_000001.10:g.161276580A>G , CM000663.1:g.161276580A>G	GRCh37
NC_000001.9:g.159543204A>G	NCBI36
NG_008055.1:g.8183T>C , LRG_256:g.8183T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.366T>C	ENSP00000488104.2:p.Asn122=
ENST00000533357.5:c.366T>C MANE Select	ENSP00000432943.1:p.Asn122=
ENST00000672287.2:c.-223T>C	ENSP00000499818.2:n.-223T>C
ENST00000672602.2:c.366T>C	ENSP00000500814.2:p.Asn122=
ENST00000674861.1:n.429T>C
ENST00000463290.5:c.366T>C	ENSP00000431538.1:p.Asn122=
ENST00000491222.5:c.-223T>C	ENSP00000431441.1:n.-223T>C
ENST00000526189.2:c.110T>C
ENST00000533357.4:c.366T>C	ENSP00000432943.1:p.Asn122=
NM_000530.6:c.366T>C , LRG_256t1:c.366T>C	NP_000521.2:p.Asn122=
NM_000530.7:c.366T>C	NP_000521.2:p.Asn122=
NM_001315491.1:c.366T>C	NP_001302420.1:p.Asn122=
XM_017001321.2:c.396T>C	XP_016856810.1:p.Asn132=
NM_000530.8:c.366T>C MANE Select	NP_000521.2:p.Asn122=
NM_001315491.2:c.366T>C	NP_001302420.1:p.Asn122=