Canonical Allele Identifier: CA481715289

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110032928T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595123T>C , CM000674.2:g.109595123T>C	GRCh38
NC_000012.11:g.110032928T>C , CM000674.1:g.110032928T>C	GRCh37
NC_000012.10:g.108517311T>C	NCBI36
NG_007702.1:g.26429T>C , LRG_156:g.26429T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.138T>C	ENSP00000439134.1:p.Leu46=
ENST00000546277.6:c.981T>C	ENSP00000438153.2:p.Leu327=
ENST00000636529.2:n.620T>C
ENST00000697195.1:c.*745T>C	ENSP00000513181.1:n.*745T>C
ENST00000697196.1:c.*154T>C	ENSP00000513182.1:n.*154T>C
ENST00000697197.1:n.3010T>C
ENST00000697198.1:n.1365T>C
ENST00000228510.8:c.981T>C MANE Select	ENSP00000228510.3:p.Leu327=
ENST00000636529.1:c.606T>C
ENST00000636996.1:c.829T>C
ENST00000228510.7:c.981T>C	ENSP00000228510.3:p.Leu327=
ENST00000392727.7:c.825T>C	ENSP00000376487.3:p.Leu275=
ENST00000447878.6:c.*428T>C	ENSP00000415555.2:n.*428T>C
ENST00000537237.5:c.*654T>C	ENSP00000445382.1:n.*654T>C
ENST00000539575.4:c.981T>C	ENSP00000443551.2:p.Leu327=
ENST00000539696.5:c.138T>C	ENSP00000439134.1:p.Leu46=
ENST00000540353.1:n.3214T>C
ENST00000625889.2:c.825T>C	ENSP00000486846.1:p.Leu275=
ENST00000629016.2:c.*428T>C	ENSP00000486804.1:n.*428T>C
NM_000431.3:c.981T>C	NP_000422.1:p.Leu327=
NM_001114185.2:c.981T>C	NP_001107657.1:p.Leu327=
NM_001301182.1:c.825T>C	NP_001288111.1:p.Leu275=
XM_011538372.1:c.981T>C	XP_011536674.1:p.Leu327=
XM_017019313.2:c.825T>C	XP_016874802.1:p.Leu275=
XM_017019314.1:c.981T>C	XP_016874803.1:p.Leu327=
NM_000431.4:c.981T>C MANE Select	NP_000422.1:p.Leu327=
NM_001114185.3:c.981T>C	NP_001107657.1:p.Leu327=
NM_001301182.2:c.825T>C	NP_001288111.1:p.Leu275=