Canonical Allele Identifier: CA31667712

Gene: MPZ

Linked Data

• dbSNP Id: rs767618495
• gnomAD v4: 1-161305888-C-A
• MyVariant Identifiers: chr1:g.161275678C>A (hg19) ; chr1:g.161305888C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305888C>A , CM000663.2:g.161305888C>A	GRCh38
NC_000001.10:g.161275678C>A , CM000663.1:g.161275678C>A	GRCh37
NC_000001.9:g.159542302C>A	NCBI36
NG_008055.1:g.9085G>T , LRG_256:g.9085G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.654G>T	ENSP00000488104.2:p.Lys218Asn
ENST00000533357.5:c.735G>T MANE Select	ENSP00000432943.1:p.Lys245Asn
ENST00000672287.2:c.147G>T	ENSP00000499818.2:p.Lys49Asn
ENST00000672602.2:c.735G>T	ENSP00000500814.2:p.Lys245Asn
ENST00000674861.1:n.798G>T
ENST00000463290.5:c.735G>T	ENSP00000431538.1:p.Lys245Asn
ENST00000476410.1:n.325G>T
ENST00000488271.1:n.173G>T
ENST00000491222.5:c.147G>T	ENSP00000431441.1:p.Lys49Asn
ENST00000526189.2:c.398G>T
ENST00000533357.4:c.735G>T	ENSP00000432943.1:p.Lys245Asn
NM_000530.6:c.735G>T , LRG_256t1:c.735G>T	NP_000521.2:p.Lys245Asn
NM_000530.7:c.735G>T	NP_000521.2:p.Lys245Asn
NM_001315491.1:c.735G>T	NP_001302420.1:p.Lys245Asn
XM_017001321.2:c.675+220G>T	XP_016856810.1:n.675+220G>T
NM_000530.8:c.735G>T MANE Select	NP_000521.2:p.Lys245Asn
NM_001315491.2:c.735G>T	NP_001302420.1:p.Lys245Asn