Canonical Allele Identifier: CA481714931

Gene: MVK

Linked Data

• gnomAD v4: 12-109591345-C-T
• MyVariant Identifiers: chr12:g.110029150C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591345C>T , CM000674.2:g.109591345C>T	GRCh38
NC_000012.11:g.110029150C>T , CM000674.1:g.110029150C>T	GRCh37
NC_000012.10:g.108513533C>T	NCBI36
NG_007702.1:g.22651C>T , LRG_156:g.22651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.30C>T	ENSP00000439134.1:p.Tyr10=
ENST00000546277.6:c.873C>T	ENSP00000438153.2:p.Tyr291=
ENST00000636529.2:n.512C>T
ENST00000697195.1:c.*637C>T	ENSP00000513181.1:n.*637C>T
ENST00000697196.1:c.*46C>T	ENSP00000513182.1:n.*46C>T
ENST00000697197.1:n.2902C>T
ENST00000228510.8:c.873C>T MANE Select	ENSP00000228510.3:p.Tyr291=
ENST00000636529.1:c.498C>T
ENST00000636996.1:c.721C>T
ENST00000228510.7:c.873C>T	ENSP00000228510.3:p.Tyr291=
ENST00000392727.7:c.717C>T	ENSP00000376487.3:p.Tyr239=
ENST00000447878.6:c.*320C>T	ENSP00000415555.2:n.*320C>T
ENST00000537237.5:c.*546C>T	ENSP00000445382.1:n.*546C>T
ENST00000539575.4:c.873C>T	ENSP00000443551.2:p.Tyr291=
ENST00000539696.5:c.30C>T	ENSP00000439134.1:p.Tyr10=
ENST00000540353.1:n.3106C>T
ENST00000625889.2:c.717C>T	ENSP00000486846.1:p.Tyr239=
ENST00000629016.2:c.*320C>T	ENSP00000486804.1:n.*320C>T
NM_000431.3:c.873C>T	NP_000422.1:p.Tyr291=
NM_001114185.2:c.873C>T	NP_001107657.1:p.Tyr291=
NM_001301182.1:c.717C>T	NP_001288111.1:p.Tyr239=
XM_011538372.1:c.873C>T	XP_011536674.1:p.Tyr291=
XM_017019313.2:c.717C>T	XP_016874802.1:p.Tyr239=
XM_017019314.1:c.873C>T	XP_016874803.1:p.Tyr291=
XM_024448982.1:c.873C>T	XP_024304750.1:p.Tyr291=
NM_000431.4:c.873C>T MANE Select	NP_000422.1:p.Tyr291=
NM_001114185.3:c.873C>T	NP_001107657.1:p.Tyr291=
NM_001301182.2:c.717C>T	NP_001288111.1:p.Tyr239=