Canonical Allele Identifier: CA243462647

Gene: MVK

Linked Data

• ClinVar Variation Id: 954760
• ClinVar RCV Id: RCV001227276
• dbSNP Id: rs971159663
• gnomAD v4: 12-109596512-G-A
• MyVariant Identifiers: chr12:g.110034317G>A (hg19) ; chr12:g.109596512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596512G>A , CM000674.2:g.109596512G>A	GRCh38
NC_000012.11:g.110034317G>A , CM000674.1:g.110034317G>A	GRCh37
NC_000012.10:g.108518700G>A	NCBI36
NG_007702.1:g.27818G>A , LRG_156:g.27818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.283G>A	ENSP00000439134.1:p.Gly95Ser
ENST00000546277.6:c.1126G>A	ENSP00000438153.2:p.Gly376Ser
ENST00000636529.2:n.765G>A
ENST00000697195.1:c.*890G>A	ENSP00000513181.1:n.*890G>A
ENST00000697196.1:c.*299G>A	ENSP00000513182.1:n.*299G>A
ENST00000697197.1:n.3155G>A
ENST00000697198.1:n.1510G>A
ENST00000228510.8:c.1126G>A MANE Select	ENSP00000228510.3:p.Gly376Ser
ENST00000636529.1:c.751G>A
ENST00000636996.1:c.974G>A
ENST00000228510.7:c.1126G>A	ENSP00000228510.3:p.Gly376Ser
ENST00000392727.7:c.970G>A	ENSP00000376487.3:p.Gly324Ser
ENST00000447878.6:c.*573G>A	ENSP00000415555.2:n.*573G>A
ENST00000537237.5:c.*799G>A	ENSP00000445382.1:n.*799G>A
ENST00000539575.4:c.1126G>A	ENSP00000443551.2:p.Gly376Ser
ENST00000539696.5:c.283G>A	ENSP00000439134.1:p.Gly95Ser
ENST00000540353.1:n.3359G>A
ENST00000625889.2:c.970G>A	ENSP00000486846.1:p.Gly324Ser
ENST00000629016.2:c.*573G>A	ENSP00000486804.1:n.*573G>A
NM_000431.3:c.1126G>A	NP_000422.1:p.Gly376Ser
NM_001114185.2:c.1126G>A	NP_001107657.1:p.Gly376Ser
NM_001301182.1:c.970G>A	NP_001288111.1:p.Gly324Ser
XM_011538372.1:c.1126G>A	XP_011536674.1:p.Gly376Ser
XM_017019313.2:c.970G>A	XP_016874802.1:p.Gly324Ser
XM_017019314.1:c.1126G>A	XP_016874803.1:p.Gly376Ser
NM_000431.4:c.1126G>A MANE Select	NP_000422.1:p.Gly376Ser
NM_001114185.3:c.1126G>A	NP_001107657.1:p.Gly376Ser
NM_001301182.2:c.970G>A	NP_001288111.1:p.Gly324Ser