Canonical Allele Identifier: CA343344205

Gene: MPZ

Linked Data

• gnomAD v4: 1-161305929-C-G
• MyVariant Identifiers: chr1:g.161275719C>G (hg19) ; chr1:g.161305929C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305929C>G , CM000663.2:g.161305929C>G	GRCh38
NC_000001.10:g.161275719C>G , CM000663.1:g.161275719C>G	GRCh37
NC_000001.9:g.159542343C>G	NCBI36
NG_008055.1:g.9044G>C , LRG_256:g.9044G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.613G>C	ENSP00000488104.2:p.Val205Leu
ENST00000533357.5:c.694G>C MANE Select	ENSP00000432943.1:p.Val232Leu
ENST00000672287.2:c.106G>C	ENSP00000499818.2:p.Val36Leu
ENST00000672602.2:c.694G>C	ENSP00000500814.2:p.Val232Leu
ENST00000674861.1:n.757G>C
ENST00000463290.5:c.694G>C	ENSP00000431538.1:p.Val232Leu
ENST00000476410.1:n.284G>C
ENST00000488271.1:n.132G>C
ENST00000491222.5:c.106G>C	ENSP00000431441.1:p.Val36Leu
ENST00000526189.2:c.357G>C
ENST00000533357.4:c.694G>C	ENSP00000432943.1:p.Val232Leu
NM_000530.6:c.694G>C , LRG_256t1:c.694G>C	NP_000521.2:p.Val232Leu
NM_000530.7:c.694G>C	NP_000521.2:p.Val232Leu
NM_001315491.1:c.694G>C	NP_001302420.1:p.Val232Leu
XM_017001321.2:c.675+179G>C	XP_016856810.1:n.675+179G>C
NM_000530.8:c.694G>C MANE Select	NP_000521.2:p.Val232Leu
NM_001315491.2:c.694G>C	NP_001302420.1:p.Val232Leu