Canonical Allele Identifier: CA6779419

Gene: MVK

Linked Data

• dbSNP Id: rs751034189
• ExAC: 12:110032876 T / C
• gnomAD v2: 12-110032876-T-C
• gnomAD v3: 12-109595071-T-C
• gnomAD v4: 12-109595071-T-C
• MyVariant Identifiers: chr12:g.110032876T>C (hg19) ; chr12:g.109595071T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595071T>C , CM000674.2:g.109595071T>C	GRCh38
NC_000012.11:g.110032876T>C , CM000674.1:g.110032876T>C	GRCh37
NC_000012.10:g.108517259T>C	NCBI36
NG_007702.1:g.26377T>C , LRG_156:g.26377T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.86T>C	ENSP00000439134.1:p.Val29Ala
ENST00000546277.6:c.929T>C	ENSP00000438153.2:p.Val310Ala
ENST00000636529.2:n.568T>C
ENST00000697195.1:c.*693T>C	ENSP00000513181.1:n.*693T>C
ENST00000697196.1:c.*102T>C	ENSP00000513182.1:n.*102T>C
ENST00000697197.1:n.2958T>C
ENST00000697198.1:n.1313T>C
ENST00000228510.8:c.929T>C MANE Select	ENSP00000228510.3:p.Val310Ala
ENST00000636529.1:c.554T>C
ENST00000636996.1:c.777T>C
ENST00000228510.7:c.929T>C	ENSP00000228510.3:p.Val310Ala
ENST00000392727.7:c.773T>C	ENSP00000376487.3:p.Val258Ala
ENST00000447878.6:c.*376T>C	ENSP00000415555.2:n.*376T>C
ENST00000537237.5:c.*602T>C	ENSP00000445382.1:n.*602T>C
ENST00000539575.4:c.929T>C	ENSP00000443551.2:p.Val310Ala
ENST00000539696.5:c.86T>C	ENSP00000439134.1:p.Val29Ala
ENST00000540353.1:n.3162T>C
ENST00000625889.2:c.773T>C	ENSP00000486846.1:p.Val258Ala
ENST00000629016.2:c.*376T>C	ENSP00000486804.1:n.*376T>C
NM_000431.3:c.929T>C	NP_000422.1:p.Val310Ala
NM_001114185.2:c.929T>C	NP_001107657.1:p.Val310Ala
NM_001301182.1:c.773T>C	NP_001288111.1:p.Val258Ala
XM_011538372.1:c.929T>C	XP_011536674.1:p.Val310Ala
XM_017019313.2:c.773T>C	XP_016874802.1:p.Val258Ala
XM_017019314.1:c.929T>C	XP_016874803.1:p.Val310Ala
NM_000431.4:c.929T>C MANE Select	NP_000422.1:p.Val310Ala
NM_001114185.3:c.929T>C	NP_001107657.1:p.Val310Ala
NM_001301182.2:c.773T>C	NP_001288111.1:p.Val258Ala