Canonical Allele Identifier: CA10608527

Gene: MPZ

Linked Data

• ClinVar Variation Id: 293302
• ClinVar RCV Id: RCV000271763 ; RCV000310426 ; RCV000302459 ; RCV000359575 ; RCV001689972
• dbSNP Id: rs149030537
• gnomAD v2: 1-161274755-T-TTCTC
• gnomAD v3: 1-161304965-T-TTCTC
• gnomAD v4: 1-161304965-T-TTCTC
• MyVariant Identifiers: chr1:g.161274756_161274759dupTCTC (hg19) ; chr1:g.161274755_161274756insTCTC (hg19) ; chr1:g.161304966_161304969dupTCTC (hg38) ; chr1:g.161304965_161304966insTCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161304973_161304976dup , CM000663.2:g.161304973_161304976dup	GRCh38
NC_000001.10:g.161274763_161274766dup , CM000663.1:g.161274763_161274766dup	GRCh37
NC_000001.9:g.159541387_159541390dup	NCBI36
NG_008055.1:g.10004_10007dup , LRG_256:g.10004_10007dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000533357.5:c.*907_*910dup MANE Select	ENSP00000432943.1:n.*907_*910dup
ENST00000672287.2:c.*907_*910dup	ENSP00000499818.2:n.*907_*910dup
ENST00000672602.2:c.*715_*718dup	ENSP00000500814.2:n.*715_*718dup
ENST00000674861.1:n.1717_1720dup
ENST00000463290.5:c.*663_*666dup	ENSP00000431538.1:n.*663_*666dup
ENST00000491222.5:c.*907_*910dup	ENSP00000431441.1:n.*907_*910dup
ENST00000533357.4:c.*907_*910dup	ENSP00000432943.1:n.*907_*910dup
NM_000530.6:c.*907_*910dup , LRG_256t1:c.*907_*910dup	NP_000521.2:n.*907_*910dup
NM_000530.7:c.*907_*910dup	NP_000521.2:n.*907_*910dup
NM_001315491.1:c.*715_*718dup	NP_001302420.1:n.*715_*718dup
XM_017001321.2:c.676-628_676-625dup	XP_016856810.1:n.676-628_676-625dup
NM_000530.8:c.*907_*910dup MANE Select	NP_000521.2:n.*907_*910dup
NM_001315491.2:c.*715_*718dup	NP_001302420.1:n.*715_*718dup