Canonical Allele Identifier: CA243462000

Gene: MVK

Linked Data

• dbSNP Id: rs905187890
• gnomAD v3: 12-109595401-G-C
• gnomAD v4: 12-109595401-G-C
• MyVariant Identifiers: chr12:g.110033206G>C (hg19) ; chr12:g.109595401G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595401G>C , CM000674.2:g.109595401G>C	GRCh38
NC_000012.11:g.110033206G>C , CM000674.1:g.110033206G>C	GRCh37
NC_000012.10:g.108517589G>C	NCBI36
NG_007702.1:g.26707G>C , LRG_156:g.26707G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.196+220G>C	ENSP00000439134.1:n.196+220G>C
ENST00000546277.6:c.1039+220G>C	ENSP00000438153.2:n.1039+220G>C
ENST00000636529.2:n.678+220G>C
ENST00000697195.1:c.*803+220G>C	ENSP00000513181.1:n.*803+220G>C
ENST00000697196.1:c.*212+220G>C	ENSP00000513182.1:n.*212+220G>C
ENST00000697197.1:n.3068+220G>C
ENST00000697198.1:n.1423+220G>C
ENST00000228510.8:c.1039+220G>C MANE Select	ENSP00000228510.3:n.1039+220G>C
ENST00000636529.1:c.664+220G>C
ENST00000636996.1:c.887+220G>C
ENST00000228510.7:c.1039+220G>C	ENSP00000228510.3:n.1039+220G>C
ENST00000392727.7:c.883+220G>C	ENSP00000376487.3:n.883+220G>C
ENST00000447878.6:c.*486+220G>C	ENSP00000415555.2:n.*486+220G>C
ENST00000537237.5:c.*712+220G>C	ENSP00000445382.1:n.*712+220G>C
ENST00000539575.4:c.1039+220G>C	ENSP00000443551.2:n.1039+220G>C
ENST00000539696.5:c.196+220G>C	ENSP00000439134.1:n.196+220G>C
ENST00000540353.1:n.3272+220G>C
ENST00000625889.2:c.883+220G>C	ENSP00000486846.1:n.883+220G>C
ENST00000629016.2:c.*486+220G>C	ENSP00000486804.1:n.*486+220G>C
NM_000431.3:c.1039+220G>C	NP_000422.1:n.1039+220G>C
NM_001114185.2:c.1039+220G>C	NP_001107657.1:n.1039+220G>C
NM_001301182.1:c.883+220G>C	NP_001288111.1:n.883+220G>C
XM_011538372.1:c.1039+220G>C	XP_011536674.1:n.1039+220G>C
XM_017019313.2:c.883+220G>C	XP_016874802.1:n.883+220G>C
XM_017019314.1:c.1039+220G>C	XP_016874803.1:n.1039+220G>C
NM_000431.4:c.1039+220G>C MANE Select	NP_000422.1:n.1039+220G>C
NM_001114185.3:c.1039+220G>C	NP_001107657.1:n.1039+220G>C
NM_001301182.2:c.883+220G>C	NP_001288111.1:n.883+220G>C