Canonical Allele Identifier: CA16606357

Gene: MVK MMAB

Linked Data

• ClinVar Variation Id: 391960
• ClinVar RCV Id: RCV000438942
• dbSNP Id: rs534090085
• gnomAD v2: 12-110011664-C-T
• gnomAD v3: 12-109573859-C-T
• gnomAD v4: 12-109573859-C-T
• MyVariant Identifiers: chr12:g.110011664C>T (hg19) ; chr12:g.109573859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573859C>T , CM000674.2:g.109573859C>T	GRCh38
NC_000012.11:g.110011664C>T , CM000674.1:g.110011664C>T	GRCh37
NC_000012.10:g.108496047C>T	NCBI36
NG_007096.1:g.4639G>A
NG_007702.1:g.5165C>T , LRG_156:g.5165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-106C>T (MVK)	ENSP00000439134.1:n.-106C>T
ENST00000546277.6:c.-15+288C>T (MVK)	ENSP00000438153.2:n.-15+288C>T
ENST00000228510.8:c.-29C>T (MVK) MANE Select	ENSP00000228510.3:n.-29C>T
ENST00000228510.7:c.-29C>T (MVK)	ENSP00000228510.3:n.-29C>T
ENST00000392727.7:c.-29C>T (MVK)	ENSP00000376487.3:n.-29C>T
ENST00000447878.6:c.-29C>T (MVK)	ENSP00000415555.2:n.-29C>T
ENST00000535044.1:n.231+288C>T (MVK)
ENST00000537237.5:c.-29C>T (MVK)	ENSP00000445382.1:n.-29C>T
ENST00000539335.5:c.-6+288C>T (MVK)	ENSP00000440379.1:n.-6+288C>T
ENST00000539696.5:c.-106C>T (MVK)	ENSP00000439134.1:n.-106C>T
ENST00000545712.6:c.-379G>A (MMAB)	ENSP00000445920.1:n.-379G>A
ENST00000545774.5:c.-29C>T (MVK)	ENSP00000443978.1:n.-29C>T
ENST00000546277.5:c.-15+288C>T (MVK)	ENSP00000438153.1:n.-15+288C>T
NM_000431.3:c.-29C>T (MVK)	NP_000422.1:n.-29C>T
NM_001114185.2:c.-20C>T (MVK)	NP_001107657.1:n.-20C>T
NM_001301182.1:c.-29C>T (MVK)	NP_001288111.1:n.-29C>T
XM_011538372.1:c.-15+288C>T (MVK)	XP_011536674.1:n.-15+288C>T
XM_017019313.2:c.-15+288C>T (MVK)	XP_016874802.1:n.-15+288C>T
XM_024448982.1:c.-15+288C>T (MVK)	XP_024304750.1:n.-15+288C>T
NM_000431.4:c.-29C>T (MVK) MANE Select	NP_000422.1:n.-29C>T
NM_001114185.3:c.-20C>T (MVK)	NP_001107657.1:n.-20C>T
NM_001301182.2:c.-29C>T (MVK)	NP_001288111.1:n.-29C>T