Canonical Allele Identifier: CA6779230

Gene: MVK

Linked Data

• ClinVar Variation Id: 307095
• ClinVar RCV Id: RCV000274865 ; RCV000367061 ; RCV001612973 ; RCV002056261
• dbSNP Id: rs201201471
• ExAC: 12:110017764 T / C
• gnomAD v2: 12-110017764-T-C
• gnomAD v3: 12-109579959-T-C
• gnomAD v4: 12-109579959-T-C
• MyVariant Identifiers: chr12:g.110017764T>C (hg19) ; chr12:g.109579959T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109579959T>C , CM000674.2:g.109579959T>C	GRCh38
NC_000012.11:g.110017764T>C , CM000674.1:g.110017764T>C	GRCh37
NC_000012.10:g.108502147T>C	NCBI36
NG_007702.1:g.11265T>C , LRG_156:g.11265T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+6086T>C	ENSP00000439134.1:n.-92+6086T>C
ENST00000546277.6:c.371+13T>C	ENSP00000438153.2:n.371+13T>C
ENST00000636529.2:n.78+5059T>C
ENST00000697195.1:c.*135+13T>C	ENSP00000513181.1:n.*135+13T>C
ENST00000697196.1:c.371+13T>C	ENSP00000513182.1:n.371+13T>C
ENST00000228510.8:c.371+13T>C MANE Select	ENSP00000228510.3:n.371+13T>C
ENST00000636529.1:c.64+5059T>C
ENST00000636996.1:c.220-1436T>C
ENST00000228510.7:c.371+13T>C	ENSP00000228510.3:n.371+13T>C
ENST00000392727.7:c.371+13T>C	ENSP00000376487.3:n.371+13T>C
ENST00000447878.6:c.226+3814T>C	ENSP00000415555.2:n.226+3814T>C
ENST00000535044.1:n.471+3814T>C
ENST00000537237.5:c.*135+13T>C	ENSP00000445382.1:n.*135+13T>C
ENST00000539335.5:c.371+13T>C	ENSP00000440379.1:n.371+13T>C
ENST00000539575.4:c.371+13T>C	ENSP00000443551.2:n.371+13T>C
ENST00000539696.5:c.-92+6086T>C	ENSP00000439134.1:n.-92+6086T>C
ENST00000545774.5:c.226+3814T>C	ENSP00000443978.1:n.226+3814T>C
ENST00000546277.5:c.371+13T>C	ENSP00000438153.1:n.371+13T>C
ENST00000625889.2:c.371+13T>C	ENSP00000486846.1:n.371+13T>C
ENST00000629016.2:c.226+3814T>C	ENSP00000486804.1:n.226+3814T>C
NM_000431.3:c.371+13T>C	NP_000422.1:n.371+13T>C
NM_001114185.2:c.371+13T>C	NP_001107657.1:n.371+13T>C
NM_001301182.1:c.371+13T>C	NP_001288111.1:n.371+13T>C
XM_011538372.1:c.371+13T>C	XP_011536674.1:n.371+13T>C
XM_017019313.2:c.371+13T>C	XP_016874802.1:n.371+13T>C
XM_017019314.1:c.371+13T>C	XP_016874803.1:n.371+13T>C
XM_024448982.1:c.371+13T>C	XP_024304750.1:n.371+13T>C
NM_000431.4:c.371+13T>C MANE Select	NP_000422.1:n.371+13T>C
NM_001114185.3:c.371+13T>C	NP_001107657.1:n.371+13T>C
NM_001301182.2:c.371+13T>C	NP_001288111.1:n.371+13T>C