Canonical Allele Identifier: CA386649226

Gene: MVK

Linked Data

• dbSNP Id: rs1317913781
• gnomAD v3: 12-109591251-T-C
• gnomAD v4: 12-109591251-T-C
• MyVariant Identifiers: chr12:g.110029056T>C (hg19) ; chr12:g.109591251T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591251T>C , CM000674.2:g.109591251T>C	GRCh38
NC_000012.11:g.110029056T>C , CM000674.1:g.110029056T>C	GRCh37
NC_000012.10:g.108513439T>C	NCBI36
NG_007702.1:g.22557T>C , LRG_156:g.22557T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-65T>C	ENSP00000439134.1:n.-65T>C
ENST00000546277.6:c.779T>C	ENSP00000438153.2:p.Ile260Thr
ENST00000636529.2:n.418T>C
ENST00000697195.1:c.*543T>C	ENSP00000513181.1:n.*543T>C
ENST00000697196.1:c.867T>C	ENSP00000513182.1:p.Asp289=
ENST00000697197.1:n.2808T>C
ENST00000228510.8:c.779T>C MANE Select	ENSP00000228510.3:p.Ile260Thr
ENST00000636529.1:c.404T>C
ENST00000636996.1:c.627T>C
ENST00000228510.7:c.779T>C	ENSP00000228510.3:p.Ile260Thr
ENST00000392727.7:c.623T>C	ENSP00000376487.3:p.Ile208Thr
ENST00000447878.6:c.*226T>C	ENSP00000415555.2:n.*226T>C
ENST00000537237.5:c.*452T>C	ENSP00000445382.1:n.*452T>C
ENST00000539575.4:c.779T>C	ENSP00000443551.2:p.Ile260Thr
ENST00000539696.5:c.-65T>C	ENSP00000439134.1:n.-65T>C
ENST00000540353.1:n.3012T>C
ENST00000625889.2:c.623T>C	ENSP00000486846.1:p.Ile208Thr
ENST00000629016.2:c.*226T>C	ENSP00000486804.1:n.*226T>C
NM_000431.3:c.779T>C	NP_000422.1:p.Ile260Thr
NM_001114185.2:c.779T>C	NP_001107657.1:p.Ile260Thr
NM_001301182.1:c.623T>C	NP_001288111.1:p.Ile208Thr
XM_011538372.1:c.779T>C	XP_011536674.1:p.Ile260Thr
XM_017019313.2:c.623T>C	XP_016874802.1:p.Ile208Thr
XM_017019314.1:c.779T>C	XP_016874803.1:p.Ile260Thr
XM_024448982.1:c.779T>C	XP_024304750.1:p.Ile260Thr
NM_000431.4:c.779T>C MANE Select	NP_000422.1:p.Ile260Thr
NM_001114185.3:c.779T>C	NP_001107657.1:p.Ile260Thr
NM_001301182.2:c.623T>C	NP_001288111.1:p.Ile208Thr