Canonical Allele Identifier: CA6779309

Gene: MVK

Linked Data

• ClinVar Variation Id: 1579489
• ClinVar RCV Id: RCV002093255
• dbSNP Id: rs201069079
• ExAC: 12:110023914 T / C
• gnomAD v2: 12-110023914-T-C
• gnomAD v3: 12-109586109-T-C
• gnomAD v4: 12-109586109-T-C
• MyVariant Identifiers: chr12:g.110023914T>C (hg19) ; chr12:g.109586109T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586109T>C , CM000674.2:g.109586109T>C	GRCh38
NC_000012.11:g.110023914T>C , CM000674.1:g.110023914T>C	GRCh37
NC_000012.10:g.108508297T>C	NCBI36
NG_007702.1:g.17415T>C , LRG_156:g.17415T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4737T>C	ENSP00000439134.1:n.-91-4737T>C
ENST00000546277.6:c.615T>C	ENSP00000438153.2:p.Asn205=
ENST00000636529.2:n.166T>C
ENST00000697195.1:c.*379T>C	ENSP00000513181.1:n.*379T>C
ENST00000697196.1:c.615T>C	ENSP00000513182.1:p.Asn205=
ENST00000228510.8:c.615T>C MANE Select	ENSP00000228510.3:p.Asn205=
ENST00000636529.1:c.152T>C
ENST00000636996.1:c.463T>C
ENST00000228510.7:c.615T>C	ENSP00000228510.3:p.Asn205=
ENST00000392727.7:c.459T>C	ENSP00000376487.3:p.Asn153=
ENST00000447878.6:c.*62T>C	ENSP00000415555.2:n.*62T>C
ENST00000537237.5:c.*379T>C	ENSP00000445382.1:n.*379T>C
ENST00000539575.4:c.615T>C	ENSP00000443551.2:p.Asn205=
ENST00000539696.5:c.-91-4737T>C	ENSP00000439134.1:n.-91-4737T>C
ENST00000545516.1:n.160T>C
ENST00000545774.5:c.*62T>C	ENSP00000443978.1:n.*62T>C
ENST00000625889.2:c.459T>C	ENSP00000486846.1:p.Asn153=
ENST00000629016.2:c.*62T>C	ENSP00000486804.1:n.*62T>C
NM_000431.3:c.615T>C	NP_000422.1:p.Asn205=
NM_001114185.2:c.615T>C	NP_001107657.1:p.Asn205=
NM_001301182.1:c.459T>C	NP_001288111.1:p.Asn153=
XM_011538372.1:c.615T>C	XP_011536674.1:p.Asn205=
XM_017019313.2:c.459T>C	XP_016874802.1:p.Asn153=
XM_017019314.1:c.615T>C	XP_016874803.1:p.Asn205=
XM_024448982.1:c.615T>C	XP_024304750.1:p.Asn205=
NM_000431.4:c.615T>C MANE Select	NP_000422.1:p.Asn205=
NM_001114185.3:c.615T>C	NP_001107657.1:p.Asn205=
NM_001301182.2:c.459T>C	NP_001288111.1:p.Asn153=