Canonical Allele Identifier: CA149872

Gene: MVK

Linked Data

• ClinVar Variation Id: 97609
• ClinVar RCV Id: RCV000083861
• dbSNP Id: rs104895376
• MyVariant Identifiers: chr12:g.110028575G>C (hg19) ; chr12:g.109590770G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590770G>C , CM000674.2:g.109590770G>C	GRCh38
NC_000012.11:g.110028575G>C , CM000674.1:g.110028575G>C	GRCh37
NC_000012.10:g.108512958G>C	NCBI36
NG_007702.1:g.22076G>C , LRG_156:g.22076G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-91-76G>C	ENSP00000439134.1:n.-91-76G>C
ENST00000546277.6:c.678-1G>C	ENSP00000438153.2:n.678-1G>C
ENST00000636529.2:n.316G>C
ENST00000697195.1:c.*442-1G>C	ENSP00000513181.1:n.*442-1G>C
ENST00000697196.1:c.765G>C	ENSP00000513182.1:p.Gln255His
ENST00000697197.1:n.2327G>C
ENST00000228510.8:c.678-1G>C MANE Select	ENSP00000228510.3:n.678-1G>C
ENST00000636529.1:c.302G>C
ENST00000636996.1:c.526-1G>C
ENST00000228510.7:c.678-1G>C	ENSP00000228510.3:n.678-1G>C
ENST00000392727.7:c.522-1G>C	ENSP00000376487.3:n.522-1G>C
ENST00000447878.6:c.*125-1G>C	ENSP00000415555.2:n.*125-1G>C
ENST00000537237.5:c.*442-471G>C	ENSP00000445382.1:n.*442-471G>C
ENST00000539575.4:c.678-1G>C	ENSP00000443551.2:n.678-1G>C
ENST00000539696.5:c.-91-76G>C	ENSP00000439134.1:n.-91-76G>C
ENST00000540353.1:n.2910G>C
ENST00000625889.2:c.522-1G>C	ENSP00000486846.1:n.522-1G>C
ENST00000629016.2:c.*125-1G>C	ENSP00000486804.1:n.*125-1G>C
NM_000431.3:c.678-1G>C	NP_000422.1:n.678-1G>C
NM_001114185.2:c.678-1G>C	NP_001107657.1:n.678-1G>C
NM_001301182.1:c.522-1G>C	NP_001288111.1:n.522-1G>C
XM_011538372.1:c.678-1G>C	XP_011536674.1:n.678-1G>C
XM_017019313.2:c.522-1G>C	XP_016874802.1:n.522-1G>C
XM_017019314.1:c.678-1G>C	XP_016874803.1:n.678-1G>C
XM_024448982.1:c.678-1G>C	XP_024304750.1:n.678-1G>C
NM_000431.4:c.678-1G>C MANE Select	NP_000422.1:n.678-1G>C
NM_001114185.3:c.678-1G>C	NP_001107657.1:n.678-1G>C
NM_001301182.2:c.522-1G>C	NP_001288111.1:n.522-1G>C