Canonical Allele Identifier: CA386649352

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110029088A>C (hg19) ; chr12:g.109591283A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591283A>C , CM000674.2:g.109591283A>C	GRCh38
NC_000012.11:g.110029088A>C , CM000674.1:g.110029088A>C	GRCh37
NC_000012.10:g.108513471A>C	NCBI36
NG_007702.1:g.22589A>C , LRG_156:g.22589A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-33A>C	ENSP00000439134.1:n.-33A>C
ENST00000546277.6:c.811A>C	ENSP00000438153.2:p.Ile271Leu
ENST00000636529.2:n.450A>C
ENST00000697195.1:c.*575A>C	ENSP00000513181.1:n.*575A>C
ENST00000697196.1:c.899A>C	ENSP00000513182.1:p.His300Pro
ENST00000697197.1:n.2840A>C
ENST00000228510.8:c.811A>C MANE Select	ENSP00000228510.3:p.Ile271Leu
ENST00000636529.1:c.436A>C
ENST00000636996.1:c.659A>C
ENST00000228510.7:c.811A>C	ENSP00000228510.3:p.Ile271Leu
ENST00000392727.7:c.655A>C	ENSP00000376487.3:p.Ile219Leu
ENST00000447878.6:c.*258A>C	ENSP00000415555.2:n.*258A>C
ENST00000537237.5:c.*484A>C	ENSP00000445382.1:n.*484A>C
ENST00000539575.4:c.811A>C	ENSP00000443551.2:p.Ile271Leu
ENST00000539696.5:c.-33A>C	ENSP00000439134.1:n.-33A>C
ENST00000540353.1:n.3044A>C
ENST00000625889.2:c.655A>C	ENSP00000486846.1:p.Ile219Leu
ENST00000629016.2:c.*258A>C	ENSP00000486804.1:n.*258A>C
NM_000431.3:c.811A>C	NP_000422.1:p.Ile271Leu
NM_001114185.2:c.811A>C	NP_001107657.1:p.Ile271Leu
NM_001301182.1:c.655A>C	NP_001288111.1:p.Ile219Leu
XM_011538372.1:c.811A>C	XP_011536674.1:p.Ile271Leu
XM_017019313.2:c.655A>C	XP_016874802.1:p.Ile219Leu
XM_017019314.1:c.811A>C	XP_016874803.1:p.Ile271Leu
XM_024448982.1:c.811A>C	XP_024304750.1:p.Ile271Leu
NM_000431.4:c.811A>C MANE Select	NP_000422.1:p.Ile271Leu
NM_001114185.3:c.811A>C	NP_001107657.1:p.Ile271Leu
NM_001301182.2:c.655A>C	NP_001288111.1:p.Ile219Leu