Canonical Allele Identifier: CA386649319

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110029077C>T (hg19) ; chr12:g.109591272C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591272C>T , CM000674.2:g.109591272C>T	GRCh38
NC_000012.11:g.110029077C>T , CM000674.1:g.110029077C>T	GRCh37
NC_000012.10:g.108513460C>T	NCBI36
NG_007702.1:g.22578C>T , LRG_156:g.22578C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-44C>T	ENSP00000439134.1:n.-44C>T
ENST00000546277.6:c.800C>T	ENSP00000438153.2:p.Ser267Leu
ENST00000636529.2:n.439C>T
ENST00000697195.1:c.*564C>T	ENSP00000513181.1:n.*564C>T
ENST00000697196.1:c.888C>T	ENSP00000513182.1:p.Leu296=
ENST00000697197.1:n.2829C>T
ENST00000228510.8:c.800C>T MANE Select	ENSP00000228510.3:p.Ser267Leu
ENST00000636529.1:c.425C>T
ENST00000636996.1:c.648C>T
ENST00000228510.7:c.800C>T	ENSP00000228510.3:p.Ser267Leu
ENST00000392727.7:c.644C>T	ENSP00000376487.3:p.Ser215Leu
ENST00000447878.6:c.*247C>T	ENSP00000415555.2:n.*247C>T
ENST00000537237.5:c.*473C>T	ENSP00000445382.1:n.*473C>T
ENST00000539575.4:c.800C>T	ENSP00000443551.2:p.Ser267Leu
ENST00000539696.5:c.-44C>T	ENSP00000439134.1:n.-44C>T
ENST00000540353.1:n.3033C>T
ENST00000625889.2:c.644C>T	ENSP00000486846.1:p.Ser215Leu
ENST00000629016.2:c.*247C>T	ENSP00000486804.1:n.*247C>T
NM_000431.3:c.800C>T	NP_000422.1:p.Ser267Leu
NM_001114185.2:c.800C>T	NP_001107657.1:p.Ser267Leu
NM_001301182.1:c.644C>T	NP_001288111.1:p.Ser215Leu
XM_011538372.1:c.800C>T	XP_011536674.1:p.Ser267Leu
XM_017019313.2:c.644C>T	XP_016874802.1:p.Ser215Leu
XM_017019314.1:c.800C>T	XP_016874803.1:p.Ser267Leu
XM_024448982.1:c.800C>T	XP_024304750.1:p.Ser267Leu
NM_000431.4:c.800C>T MANE Select	NP_000422.1:p.Ser267Leu
NM_001114185.3:c.800C>T	NP_001107657.1:p.Ser267Leu
NM_001301182.2:c.644C>T	NP_001288111.1:p.Ser215Leu