Canonical Allele Identifier: CA386651322

Gene: MVK

Linked Data

• gnomAD v4: 12-109596479-T-C
• MyVariant Identifiers: chr12:g.110034284T>C (hg19) ; chr12:g.109596479T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596479T>C , CM000674.2:g.109596479T>C	GRCh38
NC_000012.11:g.110034284T>C , CM000674.1:g.110034284T>C	GRCh37
NC_000012.10:g.108518667T>C	NCBI36
NG_007702.1:g.27785T>C , LRG_156:g.27785T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.250T>C	ENSP00000439134.1:p.Phe84Leu
ENST00000546277.6:c.1093T>C	ENSP00000438153.2:p.Phe365Leu
ENST00000636529.2:n.732T>C
ENST00000697195.1:c.*857T>C	ENSP00000513181.1:n.*857T>C
ENST00000697196.1:c.*266T>C	ENSP00000513182.1:n.*266T>C
ENST00000697197.1:n.3122T>C
ENST00000697198.1:n.1477T>C
ENST00000228510.8:c.1093T>C MANE Select	ENSP00000228510.3:p.Phe365Leu
ENST00000636529.1:c.718T>C
ENST00000636996.1:c.941T>C
ENST00000228510.7:c.1093T>C	ENSP00000228510.3:p.Phe365Leu
ENST00000392727.7:c.937T>C	ENSP00000376487.3:p.Phe313Leu
ENST00000447878.6:c.*540T>C	ENSP00000415555.2:n.*540T>C
ENST00000537237.5:c.*766T>C	ENSP00000445382.1:n.*766T>C
ENST00000539575.4:c.1093T>C	ENSP00000443551.2:p.Phe365Leu
ENST00000539696.5:c.250T>C	ENSP00000439134.1:p.Phe84Leu
ENST00000540353.1:n.3326T>C
ENST00000625889.2:c.937T>C	ENSP00000486846.1:p.Phe313Leu
ENST00000629016.2:c.*540T>C	ENSP00000486804.1:n.*540T>C
NM_000431.3:c.1093T>C	NP_000422.1:p.Phe365Leu
NM_001114185.2:c.1093T>C	NP_001107657.1:p.Phe365Leu
NM_001301182.1:c.937T>C	NP_001288111.1:p.Phe313Leu
XM_011538372.1:c.1093T>C	XP_011536674.1:p.Phe365Leu
XM_017019313.2:c.937T>C	XP_016874802.1:p.Phe313Leu
XM_017019314.1:c.1093T>C	XP_016874803.1:p.Phe365Leu
NM_000431.4:c.1093T>C MANE Select	NP_000422.1:p.Phe365Leu
NM_001114185.3:c.1093T>C	NP_001107657.1:p.Phe365Leu
NM_001301182.2:c.937T>C	NP_001288111.1:p.Phe313Leu