Canonical Allele Identifier: CA607287000

Gene: MVK

Linked Data

• dbSNP Id: rs1300664468
• gnomAD v2: 12-110012590-C-T
• gnomAD v4: 12-109574785-C-T
• MyVariant Identifiers: chr12:g.110012590C>T (hg19) ; chr12:g.109574785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109574785C>T , CM000674.2:g.109574785C>T	GRCh38
NC_000012.11:g.110012590C>T , CM000674.1:g.110012590C>T	GRCh37
NC_000012.10:g.108496973C>T	NCBI36
NG_007096.1:g.3713G>A
NG_007702.1:g.6091C>T , LRG_156:g.6091C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+912C>T	ENSP00000439134.1:n.-92+912C>T
ENST00000546277.6:c.-14-24C>T	ENSP00000438153.2:n.-14-24C>T
ENST00000697195.1:c.-38C>T	ENSP00000513181.1:n.-38C>T
ENST00000228510.8:c.-14-24C>T MANE Select	ENSP00000228510.3:n.-14-24C>T
ENST00000228510.7:c.-14-24C>T	ENSP00000228510.3:n.-14-24C>T
ENST00000392727.7:c.-14-24C>T	ENSP00000376487.3:n.-14-24C>T
ENST00000447878.6:c.-14-24C>T	ENSP00000415555.2:n.-14-24C>T
ENST00000535044.1:n.232-24C>T
ENST00000537237.5:c.-14-24C>T	ENSP00000445382.1:n.-14-24C>T
ENST00000539335.5:c.-5-33C>T	ENSP00000440379.1:n.-5-33C>T
ENST00000539696.5:c.-92+912C>T	ENSP00000439134.1:n.-92+912C>T
ENST00000545774.5:c.-14-24C>T	ENSP00000443978.1:n.-14-24C>T
ENST00000546277.5:c.-14-24C>T	ENSP00000438153.1:n.-14-24C>T
NM_000431.3:c.-14-24C>T	NP_000422.1:n.-14-24C>T
NM_001114185.2:c.-5-33C>T	NP_001107657.1:n.-5-33C>T
NM_001301182.1:c.-14-24C>T	NP_001288111.1:n.-14-24C>T
XM_011538372.1:c.-14-24C>T	XP_011536674.1:n.-14-24C>T
XM_017019313.2:c.-14-24C>T	XP_016874802.1:n.-14-24C>T
XM_017019314.1:c.-14-24C>T	XP_016874803.1:n.-14-24C>T
XM_024448982.1:c.-14-24C>T	XP_024304750.1:n.-14-24C>T
NM_000431.4:c.-14-24C>T MANE Select	NP_000422.1:n.-14-24C>T
NM_001114185.3:c.-5-33C>T	NP_001107657.1:n.-5-33C>T
NM_001301182.2:c.-14-24C>T	NP_001288111.1:n.-14-24C>T