Canonical Allele Identifier: CA10577434

Gene: MVK

Linked Data

• ClinVar Variation Id: 234637
• ClinVar RCV Id: RCV000218737 ; RCV003765447
• dbSNP Id: rs876661134
• gnomAD v2: 12-110029096-G-A
• gnomAD v3: 12-109591291-G-A
• gnomAD v4: 12-109591291-G-A
• MyVariant Identifiers: chr12:g.110029096G>A (hg19) ; chr12:g.109591291G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591291G>A , CM000674.2:g.109591291G>A	GRCh38
NC_000012.11:g.110029096G>A , CM000674.1:g.110029096G>A	GRCh37
NC_000012.10:g.108513479G>A	NCBI36
NG_007702.1:g.22597G>A , LRG_156:g.22597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-25G>A	ENSP00000439134.1:n.-25G>A
ENST00000546277.6:c.819G>A	ENSP00000438153.2:p.Leu273=
ENST00000636529.2:n.458G>A
ENST00000697195.1:c.*583G>A	ENSP00000513181.1:n.*583G>A
ENST00000697196.1:c.907G>A	ENSP00000513182.1:p.Gly303Arg
ENST00000697197.1:n.2848G>A
ENST00000228510.8:c.819G>A MANE Select	ENSP00000228510.3:p.Leu273=
ENST00000636529.1:c.444G>A
ENST00000636996.1:c.667G>A
ENST00000228510.7:c.819G>A	ENSP00000228510.3:p.Leu273=
ENST00000392727.7:c.663G>A	ENSP00000376487.3:p.Leu221=
ENST00000447878.6:c.*266G>A	ENSP00000415555.2:n.*266G>A
ENST00000537237.5:c.*492G>A	ENSP00000445382.1:n.*492G>A
ENST00000539575.4:c.819G>A	ENSP00000443551.2:p.Leu273=
ENST00000539696.5:c.-25G>A	ENSP00000439134.1:n.-25G>A
ENST00000540353.1:n.3052G>A
ENST00000625889.2:c.663G>A	ENSP00000486846.1:p.Leu221=
ENST00000629016.2:c.*266G>A	ENSP00000486804.1:n.*266G>A
NM_000431.3:c.819G>A	NP_000422.1:p.Leu273=
NM_001114185.2:c.819G>A	NP_001107657.1:p.Leu273=
NM_001301182.1:c.663G>A	NP_001288111.1:p.Leu221=
XM_011538372.1:c.819G>A	XP_011536674.1:p.Leu273=
XM_017019313.2:c.663G>A	XP_016874802.1:p.Leu221=
XM_017019314.1:c.819G>A	XP_016874803.1:p.Leu273=
XM_024448982.1:c.819G>A	XP_024304750.1:p.Leu273=
NM_000431.4:c.819G>A MANE Select	NP_000422.1:p.Leu273=
NM_001114185.3:c.819G>A	NP_001107657.1:p.Leu273=
NM_001301182.2:c.663G>A	NP_001288111.1:p.Leu221=