Canonical Allele Identifier: CA343344187

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275718A>C (hg19) ; chr1:g.161305928A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305928A>C , CM000663.2:g.161305928A>C	GRCh38
NC_000001.10:g.161275718A>C , CM000663.1:g.161275718A>C	GRCh37
NC_000001.9:g.159542342A>C	NCBI36
NG_008055.1:g.9045T>G , LRG_256:g.9045T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.614T>G	ENSP00000488104.2:p.Val205Gly
ENST00000533357.5:c.695T>G MANE Select	ENSP00000432943.1:p.Val232Gly
ENST00000672287.2:c.107T>G	ENSP00000499818.2:p.Val36Gly
ENST00000672602.2:c.695T>G	ENSP00000500814.2:p.Val232Gly
ENST00000674861.1:n.758T>G
ENST00000463290.5:c.695T>G	ENSP00000431538.1:p.Val232Gly
ENST00000476410.1:n.285T>G
ENST00000488271.1:n.133T>G
ENST00000491222.5:c.107T>G	ENSP00000431441.1:p.Val36Gly
ENST00000526189.2:c.358T>G
ENST00000533357.4:c.695T>G	ENSP00000432943.1:p.Val232Gly
NM_000530.6:c.695T>G , LRG_256t1:c.695T>G	NP_000521.2:p.Val232Gly
NM_000530.7:c.695T>G	NP_000521.2:p.Val232Gly
NM_001315491.1:c.695T>G	NP_001302420.1:p.Val232Gly
XM_017001321.2:c.675+180T>G	XP_016856810.1:n.675+180T>G
NM_000530.8:c.695T>G MANE Select	NP_000521.2:p.Val232Gly
NM_001315491.2:c.695T>G	NP_001302420.1:p.Val232Gly