Canonical Allele Identifier: CA386650346

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110032852A>C (hg19) ; chr12:g.109595047A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595047A>C , CM000674.2:g.109595047A>C	GRCh38
NC_000012.11:g.110032852A>C , CM000674.1:g.110032852A>C	GRCh37
NC_000012.10:g.108517235A>C	NCBI36
NG_007702.1:g.26353A>C , LRG_156:g.26353A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.62A>C	ENSP00000439134.1:p.Gln21Pro
ENST00000546277.6:c.905A>C	ENSP00000438153.2:p.Gln302Pro
ENST00000636529.2:n.544A>C
ENST00000697195.1:c.*669A>C	ENSP00000513181.1:n.*669A>C
ENST00000697196.1:c.*78A>C	ENSP00000513182.1:n.*78A>C
ENST00000697197.1:n.2934A>C
ENST00000697198.1:n.1289A>C
ENST00000228510.8:c.905A>C MANE Select	ENSP00000228510.3:p.Gln302Pro
ENST00000636529.1:c.530A>C
ENST00000636996.1:c.753A>C
ENST00000228510.7:c.905A>C	ENSP00000228510.3:p.Gln302Pro
ENST00000392727.7:c.749A>C	ENSP00000376487.3:p.Gln250Pro
ENST00000447878.6:c.*352A>C	ENSP00000415555.2:n.*352A>C
ENST00000537237.5:c.*578A>C	ENSP00000445382.1:n.*578A>C
ENST00000539575.4:c.905A>C	ENSP00000443551.2:p.Gln302Pro
ENST00000539696.5:c.62A>C	ENSP00000439134.1:p.Gln21Pro
ENST00000540353.1:n.3138A>C
ENST00000625889.2:c.749A>C	ENSP00000486846.1:p.Gln250Pro
ENST00000629016.2:c.*352A>C	ENSP00000486804.1:n.*352A>C
NM_000431.3:c.905A>C	NP_000422.1:p.Gln302Pro
NM_001114185.2:c.905A>C	NP_001107657.1:p.Gln302Pro
NM_001301182.1:c.749A>C	NP_001288111.1:p.Gln250Pro
XM_011538372.1:c.905A>C	XP_011536674.1:p.Gln302Pro
XM_017019313.2:c.749A>C	XP_016874802.1:p.Gln250Pro
XM_017019314.1:c.905A>C	XP_016874803.1:p.Gln302Pro
NM_000431.4:c.905A>C MANE Select	NP_000422.1:p.Gln302Pro
NM_001114185.3:c.905A>C	NP_001107657.1:p.Gln302Pro
NM_001301182.2:c.749A>C	NP_001288111.1:p.Gln250Pro