Canonical Allele Identifier: CA607288849

Gene: MVK

Linked Data

• dbSNP Id: rs1347177960
• gnomAD v2: 12-110029016-T-G
• MyVariant Identifiers: chr12:g.110029016T>G (hg19) ; chr12:g.109591211T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591211T>G , CM000674.2:g.109591211T>G	GRCh38
NC_000012.11:g.110029016T>G , CM000674.1:g.110029016T>G	GRCh37
NC_000012.10:g.108513399T>G	NCBI36
NG_007702.1:g.22517T>G , LRG_156:g.22517T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-75-30T>G	ENSP00000439134.1:n.-75-30T>G
ENST00000546277.6:c.769-30T>G	ENSP00000438153.2:n.769-30T>G
ENST00000636529.2:n.408-30T>G
ENST00000697195.1:c.*533-30T>G	ENSP00000513181.1:n.*533-30T>G
ENST00000697196.1:c.857-30T>G	ENSP00000513182.1:n.857-30T>G
ENST00000697197.1:n.2768T>G
ENST00000228510.8:c.769-30T>G MANE Select	ENSP00000228510.3:n.769-30T>G
ENST00000636529.1:c.394-30T>G
ENST00000636996.1:c.617-30T>G
ENST00000228510.7:c.769-30T>G	ENSP00000228510.3:n.769-30T>G
ENST00000392727.7:c.613-30T>G	ENSP00000376487.3:n.613-30T>G
ENST00000447878.6:c.*216-30T>G	ENSP00000415555.2:n.*216-30T>G
ENST00000537237.5:c.*442-30T>G	ENSP00000445382.1:n.*442-30T>G
ENST00000539575.4:c.769-30T>G	ENSP00000443551.2:n.769-30T>G
ENST00000539696.5:c.-75-30T>G	ENSP00000439134.1:n.-75-30T>G
ENST00000540353.1:n.3002-30T>G
ENST00000625889.2:c.613-30T>G	ENSP00000486846.1:n.613-30T>G
ENST00000629016.2:c.*216-30T>G	ENSP00000486804.1:n.*216-30T>G
NM_000431.3:c.769-30T>G	NP_000422.1:n.769-30T>G
NM_001114185.2:c.769-30T>G	NP_001107657.1:n.769-30T>G
NM_001301182.1:c.613-30T>G	NP_001288111.1:n.613-30T>G
XM_011538372.1:c.769-30T>G	XP_011536674.1:n.769-30T>G
XM_017019313.2:c.613-30T>G	XP_016874802.1:n.613-30T>G
XM_017019314.1:c.769-30T>G	XP_016874803.1:n.769-30T>G
XM_024448982.1:c.769-30T>G	XP_024304750.1:n.769-30T>G
NM_000431.4:c.769-30T>G MANE Select	NP_000422.1:n.769-30T>G
NM_001114185.3:c.769-30T>G	NP_001107657.1:n.769-30T>G
NM_001301182.2:c.613-30T>G	NP_001288111.1:n.613-30T>G