Canonical Allele Identifier: CA386647672

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110023884G>T (hg19) ; chr12:g.109586079G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586079G>T , CM000674.2:g.109586079G>T	GRCh38
NC_000012.11:g.110023884G>T , CM000674.1:g.110023884G>T	GRCh37
NC_000012.10:g.108508267G>T	NCBI36
NG_007702.1:g.17385G>T , LRG_156:g.17385G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4767G>T	ENSP00000439134.1:n.-91-4767G>T
ENST00000546277.6:c.585G>T	ENSP00000438153.2:p.Met195Ile
ENST00000636529.2:n.136G>T
ENST00000697195.1:c.*349G>T	ENSP00000513181.1:n.*349G>T
ENST00000697196.1:c.585G>T	ENSP00000513182.1:p.Met195Ile
ENST00000228510.8:c.585G>T MANE Select	ENSP00000228510.3:p.Met195Ile
ENST00000636529.1:c.122G>T
ENST00000636996.1:c.433G>T
ENST00000228510.7:c.585G>T	ENSP00000228510.3:p.Met195Ile
ENST00000392727.7:c.429G>T	ENSP00000376487.3:p.Met143Ile
ENST00000447878.6:c.*32G>T	ENSP00000415555.2:n.*32G>T
ENST00000535044.1:n.529G>T
ENST00000537237.5:c.*349G>T	ENSP00000445382.1:n.*349G>T
ENST00000539575.4:c.585G>T	ENSP00000443551.2:p.Met195Ile
ENST00000539696.5:c.-91-4767G>T	ENSP00000439134.1:n.-91-4767G>T
ENST00000545516.1:n.130G>T
ENST00000545774.5:c.*32G>T	ENSP00000443978.1:n.*32G>T
ENST00000546277.5:c.585G>T	ENSP00000438153.1:p.Met195Ile
ENST00000625889.2:c.429G>T	ENSP00000486846.1:p.Met143Ile
ENST00000629016.2:c.*32G>T	ENSP00000486804.1:n.*32G>T
NM_000431.3:c.585G>T	NP_000422.1:p.Met195Ile
NM_001114185.2:c.585G>T	NP_001107657.1:p.Met195Ile
NM_001301182.1:c.429G>T	NP_001288111.1:p.Met143Ile
XM_011538372.1:c.585G>T	XP_011536674.1:p.Met195Ile
XM_017019313.2:c.429G>T	XP_016874802.1:p.Met143Ile
XM_017019314.1:c.585G>T	XP_016874803.1:p.Met195Ile
XM_024448982.1:c.585G>T	XP_024304750.1:p.Met195Ile
NM_000431.4:c.585G>T MANE Select	NP_000422.1:p.Met195Ile
NM_001114185.3:c.585G>T	NP_001107657.1:p.Met195Ile
NM_001301182.2:c.429G>T	NP_001288111.1:p.Met143Ile