Canonical Allele Identifier: CA386649189

Gene: MVK

Linked Data

• dbSNP Id: rs1196257138
• gnomAD v2: 12-110029049-C-T
• gnomAD v3: 12-109591244-C-T
• gnomAD v4: 12-109591244-C-T
• MyVariant Identifiers: chr12:g.110029049C>T (hg19) ; chr12:g.109591244C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591244C>T , CM000674.2:g.109591244C>T	GRCh38
NC_000012.11:g.110029049C>T , CM000674.1:g.110029049C>T	GRCh37
NC_000012.10:g.108513432C>T	NCBI36
NG_007702.1:g.22550C>T , LRG_156:g.22550C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-72C>T	ENSP00000439134.1:n.-72C>T
ENST00000546277.6:c.772C>T	ENSP00000438153.2:p.Pro258Ser
ENST00000636529.2:n.411C>T
ENST00000697195.1:c.*536C>T	ENSP00000513181.1:n.*536C>T
ENST00000697196.1:c.860C>T	ENSP00000513182.1:p.Pro287Leu
ENST00000697197.1:n.2801C>T
ENST00000228510.8:c.772C>T MANE Select	ENSP00000228510.3:p.Pro258Ser
ENST00000636529.1:c.397C>T
ENST00000636996.1:c.620C>T
ENST00000228510.7:c.772C>T	ENSP00000228510.3:p.Pro258Ser
ENST00000392727.7:c.616C>T	ENSP00000376487.3:p.Pro206Ser
ENST00000447878.6:c.*219C>T	ENSP00000415555.2:n.*219C>T
ENST00000537237.5:c.*445C>T	ENSP00000445382.1:n.*445C>T
ENST00000539575.4:c.772C>T	ENSP00000443551.2:p.Pro258Ser
ENST00000539696.5:c.-72C>T	ENSP00000439134.1:n.-72C>T
ENST00000540353.1:n.3005C>T
ENST00000625889.2:c.616C>T	ENSP00000486846.1:p.Pro206Ser
ENST00000629016.2:c.*219C>T	ENSP00000486804.1:n.*219C>T
NM_000431.3:c.772C>T	NP_000422.1:p.Pro258Ser
NM_001114185.2:c.772C>T	NP_001107657.1:p.Pro258Ser
NM_001301182.1:c.616C>T	NP_001288111.1:p.Pro206Ser
XM_011538372.1:c.772C>T	XP_011536674.1:p.Pro258Ser
XM_017019313.2:c.616C>T	XP_016874802.1:p.Pro206Ser
XM_017019314.1:c.772C>T	XP_016874803.1:p.Pro258Ser
XM_024448982.1:c.772C>T	XP_024304750.1:p.Pro258Ser
NM_000431.4:c.772C>T MANE Select	NP_000422.1:p.Pro258Ser
NM_001114185.3:c.772C>T	NP_001107657.1:p.Pro258Ser
NM_001301182.2:c.616C>T	NP_001288111.1:p.Pro206Ser