Canonical Allele Identifier: CA356597

Gene: MPZ

Linked Data

• ClinVar Variation Id: 208147
• ClinVar RCV Id: RCV000194363
• PubMed: PMID:20301384

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.[161306819C>A;161306915G>A] , CM000663.2:g.[161306819C>A;161306915G>A]	GRCh38
NC_000001.10:g.[161276609C>A;161276705G>A] , CM000663.1:g.[161276609C>A;161276705G>A]	GRCh37
NC_000001.9:g.[159543233C>A;159543329G>A]	NCBI36
NG_008055.1:g.[8058C>T;8154G>T] , LRG_256:g.[8058C>T;8154G>T]

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.[241C>T;337G>T]	ENSP00000488104.2:p.[His81Tyr;Val113Phe]
ENST00000533357.5:c.[241C>T;337G>T] MANE Select	ENSP00000432943.1:p.[His81Tyr;Val113Phe]
ENST00000672287.2:c.[-348C>T;-252G>T]	ENSP00000499818.2:n.[-348C>T;-252G>T]
ENST00000672602.2:c.[241C>T;337G>T]	ENSP00000500814.2:p.[His81Tyr;Val113Phe]
ENST00000674861.1:n.[304C>T;400G>T]
ENST00000463290.5:c.[241C>T;337G>T]	ENSP00000431538.1:p.[His81Tyr;Val113Phe]
ENST00000491222.5:c.[-348C>T;-252G>T]	ENSP00000431441.1:n.[-348C>T;-252G>T]
ENST00000533357.4:c.[241C>T;337G>T]	ENSP00000432943.1:p.[His81Tyr;Val113Phe]
NM_000530.6:c.[241C>T;337G>T] , LRG_256t1:c.[241C>T;337G>T]	NP_000521.2:p.[His81Tyr;Val113Phe]
NM_000530.7:c.[241C>T;337G>T]	NP_000521.2:p.[His81Tyr;Val113Phe]
NM_001315491.1:c.[241C>T;337G>T]	NP_001302420.1:p.[His81Tyr;Val113Phe]
XM_017001321.2:c.[271C>T;367G>T]	XP_016856810.1:p.[His91Tyr;Val123Phe]
NM_000530.8:c.[241C>T;337G>T] MANE Select	NP_000521.2:p.[His81Tyr;Val113Phe]
NM_001315491.2:c.[241C>T;337G>T]	NP_001302420.1:p.[His81Tyr;Val113Phe]