Canonical Allele Identifier: CA343344856

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275935T>G (hg19) ; chr1:g.161306145T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306145T>G , CM000663.2:g.161306145T>G	GRCh38
NC_000001.10:g.161275935T>G , CM000663.1:g.161275935T>G	GRCh37
NC_000001.9:g.159542559T>G	NCBI36
NG_008055.1:g.8828A>C , LRG_256:g.8828A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.527A>C	ENSP00000488104.2:p.His176Pro
ENST00000533357.5:c.608A>C MANE Select	ENSP00000432943.1:p.His203Pro
ENST00000672287.2:c.20A>C	ENSP00000499818.2:p.His7Pro
ENST00000672602.2:c.608A>C	ENSP00000500814.2:p.His203Pro
ENST00000674861.1:n.671A>C
ENST00000463290.5:c.608A>C	ENSP00000431538.1:p.His203Pro
ENST00000476410.1:n.68A>C
ENST00000488271.1:n.46A>C
ENST00000491222.5:c.20A>C	ENSP00000431441.1:p.His7Pro
ENST00000526189.2:c.271A>C
ENST00000533357.4:c.608A>C	ENSP00000432943.1:p.His203Pro
NM_000530.6:c.608A>C , LRG_256t1:c.608A>C	NP_000521.2:p.His203Pro
NM_000530.7:c.608A>C	NP_000521.2:p.His203Pro
NM_001315491.1:c.608A>C	NP_001302420.1:p.His203Pro
XM_017001321.2:c.638A>C	XP_016856810.1:p.His213Pro
NM_000530.8:c.608A>C MANE Select	NP_000521.2:p.His203Pro
NM_001315491.2:c.608A>C	NP_001302420.1:p.His203Pro