Canonical Allele Identifier: CA481714874

Gene: MVK

Linked Data

• ClinVar Variation Id: 2930188
• ClinVar RCV Id: RCV003787546
• gnomAD v4: 12-109591261-C-T
• MyVariant Identifiers: chr12:g.110029066C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591261C>T , CM000674.2:g.109591261C>T	GRCh38
NC_000012.11:g.110029066C>T , CM000674.1:g.110029066C>T	GRCh37
NC_000012.10:g.108513449C>T	NCBI36
NG_007702.1:g.22567C>T , LRG_156:g.22567C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-55C>T	ENSP00000439134.1:n.-55C>T
ENST00000546277.6:c.789C>T	ENSP00000438153.2:p.Pro263=
ENST00000636529.2:n.428C>T
ENST00000697195.1:c.*553C>T	ENSP00000513181.1:n.*553C>T
ENST00000697196.1:c.877C>T	ENSP00000513182.1:p.Pro293Ser
ENST00000697197.1:n.2818C>T
ENST00000228510.8:c.789C>T MANE Select	ENSP00000228510.3:p.Pro263=
ENST00000636529.1:c.414C>T
ENST00000636996.1:c.637C>T
ENST00000228510.7:c.789C>T	ENSP00000228510.3:p.Pro263=
ENST00000392727.7:c.633C>T	ENSP00000376487.3:p.Pro211=
ENST00000447878.6:c.*236C>T	ENSP00000415555.2:n.*236C>T
ENST00000537237.5:c.*462C>T	ENSP00000445382.1:n.*462C>T
ENST00000539575.4:c.789C>T	ENSP00000443551.2:p.Pro263=
ENST00000539696.5:c.-55C>T	ENSP00000439134.1:n.-55C>T
ENST00000540353.1:n.3022C>T
ENST00000625889.2:c.633C>T	ENSP00000486846.1:p.Pro211=
ENST00000629016.2:c.*236C>T	ENSP00000486804.1:n.*236C>T
NM_000431.3:c.789C>T	NP_000422.1:p.Pro263=
NM_001114185.2:c.789C>T	NP_001107657.1:p.Pro263=
NM_001301182.1:c.633C>T	NP_001288111.1:p.Pro211=
XM_011538372.1:c.789C>T	XP_011536674.1:p.Pro263=
XM_017019313.2:c.633C>T	XP_016874802.1:p.Pro211=
XM_017019314.1:c.789C>T	XP_016874803.1:p.Pro263=
XM_024448982.1:c.789C>T	XP_024304750.1:p.Pro263=
NM_000431.4:c.789C>T MANE Select	NP_000422.1:p.Pro263=
NM_001114185.3:c.789C>T	NP_001107657.1:p.Pro263=
NM_001301182.2:c.633C>T	NP_001288111.1:p.Pro211=