Canonical Allele Identifier: CA386650997

Gene: MVK

Linked Data

• ClinVar Variation Id: 1959904
• ClinVar RCV Id: RCV002701518
• dbSNP Id: rs1256501368
• gnomAD v2: 12-110032966-G-C
• gnomAD v4: 12-109595161-G-C
• COSMIC: COSM5790432
• MyVariant Identifiers: chr12:g.110032966G>C (hg19) ; chr12:g.109595161G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595161G>C , CM000674.2:g.109595161G>C	GRCh38
NC_000012.11:g.110032966G>C , CM000674.1:g.110032966G>C	GRCh37
NC_000012.10:g.108517349G>C	NCBI36
NG_007702.1:g.26467G>C , LRG_156:g.26467G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.176G>C	ENSP00000439134.1:p.Gly59Ala
ENST00000546277.6:c.1019G>C	ENSP00000438153.2:p.Gly340Ala
ENST00000636529.2:n.658G>C
ENST00000697195.1:c.*783G>C	ENSP00000513181.1:n.*783G>C
ENST00000697196.1:c.*192G>C	ENSP00000513182.1:n.*192G>C
ENST00000697197.1:n.3048G>C
ENST00000697198.1:n.1403G>C
ENST00000228510.8:c.1019G>C MANE Select	ENSP00000228510.3:p.Gly340Ala
ENST00000636529.1:c.644G>C
ENST00000636996.1:c.867G>C
ENST00000228510.7:c.1019G>C	ENSP00000228510.3:p.Gly340Ala
ENST00000392727.7:c.863G>C	ENSP00000376487.3:p.Gly288Ala
ENST00000447878.6:c.*466G>C	ENSP00000415555.2:n.*466G>C
ENST00000537237.5:c.*692G>C	ENSP00000445382.1:n.*692G>C
ENST00000539575.4:c.1019G>C	ENSP00000443551.2:p.Gly340Ala
ENST00000539696.5:c.176G>C	ENSP00000439134.1:p.Gly59Ala
ENST00000540353.1:n.3252G>C
ENST00000625889.2:c.863G>C	ENSP00000486846.1:p.Gly288Ala
ENST00000629016.2:c.*466G>C	ENSP00000486804.1:n.*466G>C
NM_000431.3:c.1019G>C	NP_000422.1:p.Gly340Ala
NM_001114185.2:c.1019G>C	NP_001107657.1:p.Gly340Ala
NM_001301182.1:c.863G>C	NP_001288111.1:p.Gly288Ala
XM_011538372.1:c.1019G>C	XP_011536674.1:p.Gly340Ala
XM_017019313.2:c.863G>C	XP_016874802.1:p.Gly288Ala
XM_017019314.1:c.1019G>C	XP_016874803.1:p.Gly340Ala
NM_000431.4:c.1019G>C MANE Select	NP_000422.1:p.Gly340Ala
NM_001114185.3:c.1019G>C	NP_001107657.1:p.Gly340Ala
NM_001301182.2:c.863G>C	NP_001288111.1:p.Gly288Ala