Canonical Allele Identifier: CA386651392

Gene: MVK

Linked Data

• ClinVar Variation Id: 2950906
• ClinVar RCV Id: RCV003802168
• MyVariant Identifiers: chr12:g.110034315C>T (hg19) ; chr12:g.109596510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596510C>T , CM000674.2:g.109596510C>T	GRCh38
NC_000012.11:g.110034315C>T , CM000674.1:g.110034315C>T	GRCh37
NC_000012.10:g.108518698C>T	NCBI36
NG_007702.1:g.27816C>T , LRG_156:g.27816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.281C>T	ENSP00000439134.1:p.Pro94Leu
ENST00000546277.6:c.1124C>T	ENSP00000438153.2:p.Pro375Leu
ENST00000636529.2:n.763C>T
ENST00000697195.1:c.*888C>T	ENSP00000513181.1:n.*888C>T
ENST00000697196.1:c.*297C>T	ENSP00000513182.1:n.*297C>T
ENST00000697197.1:n.3153C>T
ENST00000697198.1:n.1508C>T
ENST00000228510.8:c.1124C>T MANE Select	ENSP00000228510.3:p.Pro375Leu
ENST00000636529.1:c.749C>T
ENST00000636996.1:c.972C>T
ENST00000228510.7:c.1124C>T	ENSP00000228510.3:p.Pro375Leu
ENST00000392727.7:c.968C>T	ENSP00000376487.3:p.Pro323Leu
ENST00000447878.6:c.*571C>T	ENSP00000415555.2:n.*571C>T
ENST00000537237.5:c.*797C>T	ENSP00000445382.1:n.*797C>T
ENST00000539575.4:c.1124C>T	ENSP00000443551.2:p.Pro375Leu
ENST00000539696.5:c.281C>T	ENSP00000439134.1:p.Pro94Leu
ENST00000540353.1:n.3357C>T
ENST00000625889.2:c.968C>T	ENSP00000486846.1:p.Pro323Leu
ENST00000629016.2:c.*571C>T	ENSP00000486804.1:n.*571C>T
NM_000431.3:c.1124C>T	NP_000422.1:p.Pro375Leu
NM_001114185.2:c.1124C>T	NP_001107657.1:p.Pro375Leu
NM_001301182.1:c.968C>T	NP_001288111.1:p.Pro323Leu
XM_011538372.1:c.1124C>T	XP_011536674.1:p.Pro375Leu
XM_017019313.2:c.968C>T	XP_016874802.1:p.Pro323Leu
XM_017019314.1:c.1124C>T	XP_016874803.1:p.Pro375Leu
NM_000431.4:c.1124C>T MANE Select	NP_000422.1:p.Pro375Leu
NM_001114185.3:c.1124C>T	NP_001107657.1:p.Pro375Leu
NM_001301182.2:c.968C>T	NP_001288111.1:p.Pro323Leu