Canonical Allele Identifier: CA343348226

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161276510C>G (hg19) ; chr1:g.161306720C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306720C>G , CM000663.2:g.161306720C>G	GRCh38
NC_000001.10:g.161276510C>G , CM000663.1:g.161276510C>G	GRCh37
NC_000001.9:g.159543134C>G	NCBI36
NG_008055.1:g.8253G>C , LRG_256:g.8253G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+69G>C	ENSP00000488104.2:n.367+69G>C
ENST00000533357.5:c.436G>C MANE Select	ENSP00000432943.1:p.Val146Leu
ENST00000672287.2:c.-153G>C	ENSP00000499818.2:n.-153G>C
ENST00000672602.2:c.436G>C	ENSP00000500814.2:p.Val146Leu
ENST00000674861.1:n.499G>C
ENST00000463290.5:c.436G>C	ENSP00000431538.1:p.Val146Leu
ENST00000491222.5:c.-153G>C	ENSP00000431441.1:n.-153G>C
ENST00000526189.2:c.111+69G>C
ENST00000533357.4:c.436G>C	ENSP00000432943.1:p.Val146Leu
NM_000530.6:c.436G>C , LRG_256t1:c.436G>C	NP_000521.2:p.Val146Leu
NM_000530.7:c.436G>C	NP_000521.2:p.Val146Leu
NM_001315491.1:c.436G>C	NP_001302420.1:p.Val146Leu
XM_017001321.2:c.466G>C	XP_016856810.1:p.Val156Leu
NM_000530.8:c.436G>C MANE Select	NP_000521.2:p.Val146Leu
NM_001315491.2:c.436G>C	NP_001302420.1:p.Val146Leu