Canonical Allele Identifier: CA421404345

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275939A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306149A>G , CM000663.2:g.161306149A>G	GRCh38
NC_000001.10:g.161275939A>G , CM000663.1:g.161275939A>G	GRCh37
NC_000001.9:g.159542563A>G	NCBI36
NG_008055.1:g.8824T>C , LRG_256:g.8824T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.523T>C	ENSP00000488104.2:p.Leu175=
ENST00000533357.5:c.604T>C MANE Select	ENSP00000432943.1:p.Leu202=
ENST00000672287.2:c.16T>C	ENSP00000499818.2:p.Leu6=
ENST00000672602.2:c.604T>C	ENSP00000500814.2:p.Leu202=
ENST00000674861.1:n.667T>C
ENST00000463290.5:c.604T>C	ENSP00000431538.1:p.Leu202=
ENST00000476410.1:n.64T>C
ENST00000488271.1:n.42T>C
ENST00000491222.5:c.16T>C	ENSP00000431441.1:p.Leu6=
ENST00000526189.2:c.267T>C
ENST00000533357.4:c.604T>C	ENSP00000432943.1:p.Leu202=
NM_000530.6:c.604T>C , LRG_256t1:c.604T>C	NP_000521.2:p.Leu202=
NM_000530.7:c.604T>C	NP_000521.2:p.Leu202=
NM_001315491.1:c.604T>C	NP_001302420.1:p.Leu202=
XM_017001321.2:c.634T>C	XP_016856810.1:p.Leu212=
NM_000530.8:c.604T>C MANE Select	NP_000521.2:p.Leu202=
NM_001315491.2:c.604T>C	NP_001302420.1:p.Leu202=