Canonical Allele Identifier: CA343344685

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275912T>G (hg19) ; chr1:g.161306122T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306122T>G , CM000663.2:g.161306122T>G	GRCh38
NC_000001.10:g.161275912T>G , CM000663.1:g.161275912T>G	GRCh37
NC_000001.9:g.159542536T>G	NCBI36
NG_008055.1:g.8851A>C , LRG_256:g.8851A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.550A>C	ENSP00000488104.2:p.Lys184Gln
ENST00000533357.5:c.631A>C MANE Select	ENSP00000432943.1:p.Lys211Gln
ENST00000672287.2:c.43A>C	ENSP00000499818.2:p.Lys15Gln
ENST00000672602.2:c.631A>C	ENSP00000500814.2:p.Lys211Gln
ENST00000674861.1:n.694A>C
ENST00000463290.5:c.631A>C	ENSP00000431538.1:p.Lys211Gln
ENST00000476410.1:n.91A>C
ENST00000488271.1:n.69A>C
ENST00000491222.5:c.43A>C	ENSP00000431441.1:p.Lys15Gln
ENST00000526189.2:c.294A>C
ENST00000533357.4:c.631A>C	ENSP00000432943.1:p.Lys211Gln
NM_000530.6:c.631A>C , LRG_256t1:c.631A>C	NP_000521.2:p.Lys211Gln
NM_000530.7:c.631A>C	NP_000521.2:p.Lys211Gln
NM_001315491.1:c.631A>C	NP_001302420.1:p.Lys211Gln
XM_017001321.2:c.661A>C	XP_016856810.1:p.Lys221Gln
NM_000530.8:c.631A>C MANE Select	NP_000521.2:p.Lys211Gln
NM_001315491.2:c.631A>C	NP_001302420.1:p.Lys211Gln