Canonical Allele Identifier: CA683459741

Gene: MVK

Linked Data

• dbSNP Id: rs1188233218
• gnomAD v3: 12-109596786-C-T
• gnomAD v4: 12-109596786-C-T
• MyVariant Identifiers: chr12:g.110034591C>T (hg19) ; chr12:g.109596786C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596786C>T , CM000674.2:g.109596786C>T	GRCh38
NC_000012.11:g.110034591C>T , CM000674.1:g.110034591C>T	GRCh37
NC_000012.10:g.108518974C>T	NCBI36
NG_007702.1:g.28092C>T , LRG_156:g.28092C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.*209C>T	ENSP00000439134.1:n.*209C>T
ENST00000546277.6:c.*209C>T	ENSP00000438153.2:n.*209C>T
ENST00000636529.2:n.1039C>T
ENST00000697195.1:c.*1164C>T	ENSP00000513181.1:n.*1164C>T
ENST00000697196.1:c.*573C>T	ENSP00000513182.1:n.*573C>T
ENST00000697197.1:n.3429C>T
ENST00000697198.1:n.1784C>T
ENST00000228510.8:c.*209C>T MANE Select	ENSP00000228510.3:n.*209C>T
ENST00000636529.1:c.1025C>T
ENST00000636996.1:c.1248C>T
ENST00000228510.7:c.*209C>T	ENSP00000228510.3:n.*209C>T
ENST00000392727.7:c.*209C>T	ENSP00000376487.3:n.*209C>T
ENST00000447878.6:c.*847C>T	ENSP00000415555.2:n.*847C>T
ENST00000539575.4:c.*209C>T	ENSP00000443551.2:n.*209C>T
ENST00000540353.1:n.3633C>T
ENST00000625889.2:c.*209C>T	ENSP00000486846.1:n.*209C>T
ENST00000629016.2:c.*847C>T	ENSP00000486804.1:n.*847C>T
NM_000431.3:c.*209C>T	NP_000422.1:n.*209C>T
NM_001114185.2:c.*209C>T	NP_001107657.1:n.*209C>T
NM_001301182.1:c.*209C>T	NP_001288111.1:n.*209C>T
XM_011538372.1:c.*209C>T	XP_011536674.1:n.*209C>T
XM_017019313.2:c.*209C>T	XP_016874802.1:n.*209C>T
XM_017019314.1:c.*209C>T	XP_016874803.1:n.*209C>T
NM_000431.4:c.*209C>T MANE Select	NP_000422.1:n.*209C>T
NM_001114185.3:c.*209C>T	NP_001107657.1:n.*209C>T
NM_001301182.2:c.*209C>T	NP_001288111.1:n.*209C>T