Canonical Allele Identifier: CA2062443732

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590849C= , CM000674.2:g.109590849C=	GRCh38
NC_000012.11:g.110028654C= , CM000674.1:g.110028654C=	GRCh37
NC_000012.10:g.108513037C=	NCBI36
NG_007702.1:g.22155C= , LRG_156:g.22155C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-88C=	ENSP00000439134.1:n.-88C=
ENST00000546277.6:c.756C=	ENSP00000438153.2:p.Asn252=
ENST00000636529.2:n.395C=
ENST00000697195.1:c.*520C=	ENSP00000513181.1:n.*520C=
ENST00000697196.1:c.844C=	ENSP00000513182.1:p.Gln282=
ENST00000697197.1:n.2406C=
ENST00000228510.8:c.756C= MANE Select	ENSP00000228510.3:p.Asn252=
ENST00000636529.1:c.381C=
ENST00000636996.1:c.604C=
ENST00000228510.7:c.756C=	ENSP00000228510.3:p.Asn252=
ENST00000392727.7:c.600C=	ENSP00000376487.3:p.Asn200=
ENST00000447878.6:c.*203C=	ENSP00000415555.2:n.*203C=
ENST00000537237.5:c.*442-392C=	ENSP00000445382.1:n.*442-392C=
ENST00000539575.4:c.756C=	ENSP00000443551.2:p.Asn252=
ENST00000539696.5:c.-88C=	ENSP00000439134.1:n.-88C=
ENST00000540353.1:n.2989C=
ENST00000625889.2:c.600C=	ENSP00000486846.1:p.Asn200=
ENST00000629016.2:c.*203C=	ENSP00000486804.1:n.*203C=
NM_000431.3:c.756C=	NP_000422.1:p.Asn252=
NM_001114185.2:c.756C=	NP_001107657.1:p.Asn252=
NM_001301182.1:c.600C=	NP_001288111.1:p.Asn200=
XM_011538372.1:c.756C=	XP_011536674.1:p.Asn252=
XM_017019313.2:c.600C=	XP_016874802.1:p.Asn200=
XM_017019314.1:c.756C=	XP_016874803.1:p.Asn252=
XM_024448982.1:c.756C=	XP_024304750.1:p.Asn252=
NM_000431.4:c.756C= MANE Select	NP_000422.1:p.Asn252=
NM_001114185.3:c.756C=	NP_001107657.1:p.Asn252=
NM_001301182.2:c.600C=	NP_001288111.1:p.Asn200=