Canonical Allele Identifier: CA607289790

Gene: MVK

Linked Data

• dbSNP Id: rs111713675
• gnomAD v2: 12-110034593-G-A
• gnomAD v3: 12-109596788-G-A
• gnomAD v4: 12-109596788-G-A
• MyVariant Identifiers: chr12:g.110034593G>A (hg19) ; chr12:g.109596788G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596788G>A , CM000674.2:g.109596788G>A	GRCh38
NC_000012.11:g.110034593G>A , CM000674.1:g.110034593G>A	GRCh37
NC_000012.10:g.108518976G>A	NCBI36
NG_007702.1:g.28094G>A , LRG_156:g.28094G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.*211G>A	ENSP00000439134.1:n.*211G>A
ENST00000546277.6:c.*211G>A	ENSP00000438153.2:n.*211G>A
ENST00000636529.2:n.1041G>A
ENST00000697195.1:c.*1166G>A	ENSP00000513181.1:n.*1166G>A
ENST00000697196.1:c.*575G>A	ENSP00000513182.1:n.*575G>A
ENST00000697197.1:n.3431G>A
ENST00000697198.1:n.1786G>A
ENST00000228510.8:c.*211G>A MANE Select	ENSP00000228510.3:n.*211G>A
ENST00000636529.1:c.1027G>A
ENST00000636996.1:c.1250G>A
ENST00000228510.7:c.*211G>A	ENSP00000228510.3:n.*211G>A
ENST00000392727.7:c.*211G>A	ENSP00000376487.3:n.*211G>A
ENST00000447878.6:c.*849G>A	ENSP00000415555.2:n.*849G>A
ENST00000539575.4:c.*211G>A	ENSP00000443551.2:n.*211G>A
ENST00000540353.1:n.3635G>A
ENST00000625889.2:c.*211G>A	ENSP00000486846.1:n.*211G>A
ENST00000629016.2:c.*849G>A	ENSP00000486804.1:n.*849G>A
NM_000431.3:c.*211G>A	NP_000422.1:n.*211G>A
NM_001114185.2:c.*211G>A	NP_001107657.1:n.*211G>A
NM_001301182.1:c.*211G>A	NP_001288111.1:n.*211G>A
XM_011538372.1:c.*211G>A	XP_011536674.1:n.*211G>A
XM_017019313.2:c.*211G>A	XP_016874802.1:n.*211G>A
XM_017019314.1:c.*211G>A	XP_016874803.1:n.*211G>A
NM_000431.4:c.*211G>A MANE Select	NP_000422.1:n.*211G>A
NM_001114185.3:c.*211G>A	NP_001107657.1:n.*211G>A
NM_001301182.2:c.*211G>A	NP_001288111.1:n.*211G>A