Canonical Allele Identifier: CA2062473153

Gene: MVK

Linked Data

• dbSNP Id: rs1885925419

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596599C>T , CM000674.2:g.109596599C>T	GRCh38
NC_000012.11:g.110034404C>T , CM000674.1:g.110034404C>T	GRCh37
NC_000012.10:g.108518787C>T	NCBI36
NG_007702.1:g.27905C>T , LRG_156:g.27905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.*22C>T	ENSP00000439134.1:n.*22C>T
ENST00000546277.6:c.*22C>T	ENSP00000438153.2:n.*22C>T
ENST00000636529.2:n.852C>T
ENST00000697195.1:c.*977C>T	ENSP00000513181.1:n.*977C>T
ENST00000697196.1:c.*386C>T	ENSP00000513182.1:n.*386C>T
ENST00000697197.1:n.3242C>T
ENST00000697198.1:n.1597C>T
ENST00000228510.8:c.*22C>T MANE Select	ENSP00000228510.3:n.*22C>T
ENST00000636529.1:c.838C>T
ENST00000636996.1:c.1061C>T
ENST00000228510.7:c.*22C>T	ENSP00000228510.3:n.*22C>T
ENST00000392727.7:c.*22C>T	ENSP00000376487.3:n.*22C>T
ENST00000447878.6:c.*660C>T	ENSP00000415555.2:n.*660C>T
ENST00000539575.4:c.*22C>T	ENSP00000443551.2:n.*22C>T
ENST00000539696.5:c.*22C>T	ENSP00000439134.1:n.*22C>T
ENST00000540353.1:n.3446C>T
ENST00000625889.2:c.*22C>T	ENSP00000486846.1:n.*22C>T
ENST00000629016.2:c.*660C>T	ENSP00000486804.1:n.*660C>T
NM_000431.3:c.*22C>T	NP_000422.1:n.*22C>T
NM_001114185.2:c.*22C>T	NP_001107657.1:n.*22C>T
NM_001301182.1:c.*22C>T	NP_001288111.1:n.*22C>T
XM_011538372.1:c.*22C>T	XP_011536674.1:n.*22C>T
XM_017019313.2:c.*22C>T	XP_016874802.1:n.*22C>T
XM_017019314.1:c.*22C>T	XP_016874803.1:n.*22C>T
NM_000431.4:c.*22C>T MANE Select	NP_000422.1:n.*22C>T
NM_001114185.3:c.*22C>T	NP_001107657.1:n.*22C>T
NM_001301182.2:c.*22C>T	NP_001288111.1:n.*22C>T