Canonical Allele Identifier: CA2062473157

Gene: MVK

Linked Data

• dbSNP Id: rs1593032886
• gnomAD v4: 12-109596603-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596603A>C , CM000674.2:g.109596603A>C	GRCh38
NC_000012.11:g.110034408A>C , CM000674.1:g.110034408A>C	GRCh37
NC_000012.10:g.108518791A>C	NCBI36
NG_007702.1:g.27909A>C , LRG_156:g.27909A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.*26A>C	ENSP00000439134.1:n.*26A>C
ENST00000546277.6:c.*26A>C	ENSP00000438153.2:n.*26A>C
ENST00000636529.2:n.856A>C
ENST00000697195.1:c.*981A>C	ENSP00000513181.1:n.*981A>C
ENST00000697196.1:c.*390A>C	ENSP00000513182.1:n.*390A>C
ENST00000697197.1:n.3246A>C
ENST00000697198.1:n.1601A>C
ENST00000228510.8:c.*26A>C MANE Select	ENSP00000228510.3:n.*26A>C
ENST00000636529.1:c.842A>C
ENST00000636996.1:c.1065A>C
ENST00000228510.7:c.*26A>C	ENSP00000228510.3:n.*26A>C
ENST00000392727.7:c.*26A>C	ENSP00000376487.3:n.*26A>C
ENST00000447878.6:c.*664A>C	ENSP00000415555.2:n.*664A>C
ENST00000539575.4:c.*26A>C	ENSP00000443551.2:n.*26A>C
ENST00000539696.5:c.*26A>C	ENSP00000439134.1:n.*26A>C
ENST00000540353.1:n.3450A>C
ENST00000625889.2:c.*26A>C	ENSP00000486846.1:n.*26A>C
ENST00000629016.2:c.*664A>C	ENSP00000486804.1:n.*664A>C
NM_000431.3:c.*26A>C	NP_000422.1:n.*26A>C
NM_001114185.2:c.*26A>C	NP_001107657.1:n.*26A>C
NM_001301182.1:c.*26A>C	NP_001288111.1:n.*26A>C
XM_011538372.1:c.*26A>C	XP_011536674.1:n.*26A>C
XM_017019313.2:c.*26A>C	XP_016874802.1:n.*26A>C
XM_017019314.1:c.*26A>C	XP_016874803.1:n.*26A>C
NM_000431.4:c.*26A>C MANE Select	NP_000422.1:n.*26A>C
NM_001114185.3:c.*26A>C	NP_001107657.1:n.*26A>C
NM_001301182.2:c.*26A>C	NP_001288111.1:n.*26A>C