Canonical Allele Identifier: CA2620819194

Gene: MVK

Linked Data

• gnomAD v4: 12-109596901-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596901T>G , CM000674.2:g.109596901T>G	GRCh38
NC_000012.11:g.110034706T>G , CM000674.1:g.110034706T>G	GRCh37
NC_000012.10:g.108519089T>G	NCBI36
NG_007702.1:g.28207T>G , LRG_156:g.28207T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.*324T>G	ENSP00000439134.1:n.*324T>G
ENST00000546277.6:c.*324T>G	ENSP00000438153.2:n.*324T>G
ENST00000636529.2:n.1154T>G
ENST00000697195.1:c.*1279T>G	ENSP00000513181.1:n.*1279T>G
ENST00000697196.1:c.*688T>G	ENSP00000513182.1:n.*688T>G
ENST00000697197.1:n.3544T>G
ENST00000697198.1:n.1899T>G
ENST00000228510.8:c.*324T>G MANE Select	ENSP00000228510.3:n.*324T>G
ENST00000636529.1:c.1140T>G
ENST00000636996.1:c.1363T>G
ENST00000228510.7:c.*324T>G	ENSP00000228510.3:n.*324T>G
ENST00000392727.7:c.*324T>G	ENSP00000376487.3:n.*324T>G
ENST00000447878.6:c.*962T>G	ENSP00000415555.2:n.*962T>G
ENST00000539575.4:c.*324T>G	ENSP00000443551.2:n.*324T>G
ENST00000540353.1:n.3748T>G
ENST00000625889.2:c.*324T>G	ENSP00000486846.1:n.*324T>G
ENST00000629016.2:c.*962T>G	ENSP00000486804.1:n.*962T>G
NM_000431.3:c.*324T>G	NP_000422.1:n.*324T>G
NM_001114185.2:c.*324T>G	NP_001107657.1:n.*324T>G
NM_001301182.1:c.*324T>G	NP_001288111.1:n.*324T>G
XM_011538372.1:c.*324T>G	XP_011536674.1:n.*324T>G
XM_017019313.2:c.*324T>G	XP_016874802.1:n.*324T>G
XM_017019314.1:c.*324T>G	XP_016874803.1:n.*324T>G
NM_000431.4:c.*324T>G MANE Select	NP_000422.1:n.*324T>G
NM_001114185.3:c.*324T>G	NP_001107657.1:n.*324T>G
NM_001301182.2:c.*324T>G	NP_001288111.1:n.*324T>G