Canonical Allele Identifier: CA343344238

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275723T>A (hg19) ; chr1:g.161305933T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305933T>A , CM000663.2:g.161305933T>A	GRCh38
NC_000001.10:g.161275723T>A , CM000663.1:g.161275723T>A	GRCh37
NC_000001.9:g.159542347T>A	NCBI36
NG_008055.1:g.9040A>T , LRG_256:g.9040A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.609A>T	ENSP00000488104.2:p.Lys203Asn
ENST00000533357.5:c.690A>T MANE Select	ENSP00000432943.1:p.Lys230Asn
ENST00000672287.2:c.102A>T	ENSP00000499818.2:p.Lys34Asn
ENST00000672602.2:c.690A>T	ENSP00000500814.2:p.Lys230Asn
ENST00000674861.1:n.753A>T
ENST00000463290.5:c.690A>T	ENSP00000431538.1:p.Lys230Asn
ENST00000476410.1:n.280A>T
ENST00000488271.1:n.128A>T
ENST00000491222.5:c.102A>T	ENSP00000431441.1:p.Lys34Asn
ENST00000526189.2:c.353A>T
ENST00000533357.4:c.690A>T	ENSP00000432943.1:p.Lys230Asn
NM_000530.6:c.690A>T , LRG_256t1:c.690A>T	NP_000521.2:p.Lys230Asn
NM_000530.7:c.690A>T	NP_000521.2:p.Lys230Asn
NM_001315491.1:c.690A>T	NP_001302420.1:p.Lys230Asn
XM_017001321.2:c.675+175A>T	XP_016856810.1:n.675+175A>T
NM_000530.8:c.690A>T MANE Select	NP_000521.2:p.Lys230Asn
NM_001315491.2:c.690A>T	NP_001302420.1:p.Lys230Asn