Canonical Allele Identifier: CA2062473129

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596537C= , CM000674.2:g.109596537C=	GRCh38
NC_000012.11:g.110034342C= , CM000674.1:g.110034342C=	GRCh37
NC_000012.10:g.108518725C=	NCBI36
NG_007702.1:g.27843C= , LRG_156:g.27843C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.308C=	ENSP00000439134.1:p.Ser103=
ENST00000546277.6:c.1151C=	ENSP00000438153.2:p.Ser384=
ENST00000636529.2:n.790C=
ENST00000697195.1:c.*915C=	ENSP00000513181.1:n.*915C=
ENST00000697196.1:c.*324C=	ENSP00000513182.1:n.*324C=
ENST00000697197.1:n.3180C=
ENST00000697198.1:n.1535C=
ENST00000228510.8:c.1151C= MANE Select	ENSP00000228510.3:p.Ser384=
ENST00000636529.1:c.776C=
ENST00000636996.1:c.999C=
ENST00000228510.7:c.1151C=	ENSP00000228510.3:p.Ser384=
ENST00000392727.7:c.995C=	ENSP00000376487.3:p.Ser332=
ENST00000447878.6:c.*598C=	ENSP00000415555.2:n.*598C=
ENST00000537237.5:c.*824C=	ENSP00000445382.1:n.*824C=
ENST00000539575.4:c.1151C=	ENSP00000443551.2:p.Ser384=
ENST00000539696.5:c.308C=	ENSP00000439134.1:p.Ser103=
ENST00000540353.1:n.3384C=
ENST00000625889.2:c.995C=	ENSP00000486846.1:p.Ser332=
ENST00000629016.2:c.*598C=	ENSP00000486804.1:n.*598C=
NM_000431.3:c.1151C=	NP_000422.1:p.Ser384=
NM_001114185.2:c.1151C=	NP_001107657.1:p.Ser384=
NM_001301182.1:c.995C=	NP_001288111.1:p.Ser332=
XM_011538372.1:c.1151C=	XP_011536674.1:p.Ser384=
XM_017019313.2:c.995C=	XP_016874802.1:p.Ser332=
XM_017019314.1:c.1151C=	XP_016874803.1:p.Ser384=
NM_000431.4:c.1151C= MANE Select	NP_000422.1:p.Ser384=
NM_001114185.3:c.1151C=	NP_001107657.1:p.Ser384=
NM_001301182.2:c.995C=	NP_001288111.1:p.Ser332=