Canonical Allele Identifier: CA121784

Gene: MVK

Linked Data

• ClinVar Variation Id: 11933
• ClinVar RCV Id: RCV000012711 ; RCV001219913
• dbSNP Id: rs121917790
• MyVariant Identifiers: chr12:g.110019322C>T (hg19) ; chr12:g.109581517C>T (hg38)
• PubMed: PMID:10369262

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109581517C>T , CM000674.2:g.109581517C>T	GRCh38
NC_000012.11:g.110019322C>T , CM000674.1:g.110019322C>T	GRCh37
NC_000012.10:g.108503705C>T	NCBI36
NG_007702.1:g.12823C>T , LRG_156:g.12823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+7644C>T	ENSP00000439134.1:n.-92+7644C>T
ENST00000546277.6:c.494C>T	ENSP00000438153.2:p.Pro165Leu
ENST00000636529.2:n.79-4505C>T
ENST00000697195.1:c.*258C>T	ENSP00000513181.1:n.*258C>T
ENST00000697196.1:c.494C>T	ENSP00000513182.1:p.Pro165Leu
ENST00000228510.8:c.494C>T MANE Select	ENSP00000228510.3:p.Pro165Leu
ENST00000636529.1:c.65-4505C>T
ENST00000636996.1:c.342C>T
ENST00000228510.7:c.494C>T	ENSP00000228510.3:p.Pro165Leu
ENST00000392727.7:c.371+1571C>T	ENSP00000376487.3:n.371+1571C>T
ENST00000447878.6:c.227-4505C>T	ENSP00000415555.2:n.227-4505C>T
ENST00000535044.1:n.472-4505C>T
ENST00000537237.5:c.*258C>T	ENSP00000445382.1:n.*258C>T
ENST00000539335.5:c.494C>T	ENSP00000440379.1:p.Pro165Leu
ENST00000539575.4:c.494C>T	ENSP00000443551.2:p.Pro165Leu
ENST00000539696.5:c.-92+7644C>T	ENSP00000439134.1:n.-92+7644C>T
ENST00000545516.1:n.39C>T
ENST00000545774.5:c.227-4505C>T	ENSP00000443978.1:n.227-4505C>T
ENST00000546277.5:c.494C>T	ENSP00000438153.1:p.Pro165Leu
ENST00000625889.2:c.371+1571C>T	ENSP00000486846.1:n.371+1571C>T
ENST00000629016.2:c.227-4505C>T	ENSP00000486804.1:n.227-4505C>T
NM_000431.3:c.494C>T	NP_000422.1:p.Pro165Leu
NM_001114185.2:c.494C>T	NP_001107657.1:p.Pro165Leu
NM_001301182.1:c.371+1571C>T	NP_001288111.1:n.371+1571C>T
XM_011538372.1:c.494C>T	XP_011536674.1:p.Pro165Leu
XM_017019313.2:c.371+1571C>T	XP_016874802.1:n.371+1571C>T
XM_017019314.1:c.494C>T	XP_016874803.1:p.Pro165Leu
XM_024448982.1:c.494C>T	XP_024304750.1:p.Pro165Leu
NM_000431.4:c.494C>T MANE Select	NP_000422.1:p.Pro165Leu
NM_001114185.3:c.494C>T	NP_001107657.1:p.Pro165Leu
NM_001301182.2:c.371+1571C>T	NP_001288111.1:n.371+1571C>T