Canonical Allele Identifier: CA10636465

Gene: MVK

Linked Data

• ClinVar Variation Id: 307110
• ClinVar RCV Id: RCV000310374 ; RCV000362916
• dbSNP Id: rs536969522
• gnomAD v2: 12-110034983-G-A
• gnomAD v3: 12-109597178-G-A
• gnomAD v4: 12-109597178-G-A
• MyVariant Identifiers: chr12:g.110034983G>A (hg19) ; chr12:g.109597178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109597178G>A , CM000674.2:g.109597178G>A	GRCh38
NC_000012.11:g.110034983G>A , CM000674.1:g.110034983G>A	GRCh37
NC_000012.10:g.108519366G>A	NCBI36
NG_007702.1:g.28484G>A , LRG_156:g.28484G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.*601G>A	ENSP00000439134.1:n.*601G>A
ENST00000546277.6:c.*601G>A	ENSP00000438153.2:n.*601G>A
ENST00000636529.2:n.1431G>A
ENST00000697195.1:c.*1556G>A	ENSP00000513181.1:n.*1556G>A
ENST00000697196.1:c.*965G>A	ENSP00000513182.1:n.*965G>A
ENST00000697197.1:n.3821G>A
ENST00000697198.1:n.2176G>A
ENST00000228510.8:c.*601G>A MANE Select	ENSP00000228510.3:n.*601G>A
ENST00000636529.1:c.1417G>A
ENST00000636996.1:c.1640G>A
ENST00000228510.7:c.*601G>A	ENSP00000228510.3:n.*601G>A
ENST00000392727.7:c.*601G>A	ENSP00000376487.3:n.*601G>A
ENST00000447878.6:c.*1239G>A	ENSP00000415555.2:n.*1239G>A
ENST00000539575.4:c.*601G>A	ENSP00000443551.2:n.*601G>A
ENST00000540353.1:n.4025G>A
ENST00000625889.2:c.*601G>A	ENSP00000486846.1:n.*601G>A
ENST00000629016.2:c.*1239G>A	ENSP00000486804.1:n.*1239G>A
NM_000431.3:c.*601G>A	NP_000422.1:n.*601G>A
NM_001114185.2:c.*601G>A	NP_001107657.1:n.*601G>A
NM_001301182.1:c.*601G>A	NP_001288111.1:n.*601G>A
XM_011538372.1:c.*601G>A	XP_011536674.1:n.*601G>A
XM_017019313.2:c.*601G>A	XP_016874802.1:n.*601G>A
XM_017019314.1:c.*601G>A	XP_016874803.1:n.*601G>A
NM_000431.4:c.*601G>A MANE Select	NP_000422.1:n.*601G>A
NM_001114185.3:c.*601G>A	NP_001107657.1:n.*601G>A
NM_001301182.2:c.*601G>A	NP_001288111.1:n.*601G>A