Canonical Allele Identifier: CA2797414394

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595013A>C , CM000674.2:g.109595013A>C	GRCh38
NC_000012.11:g.110032818A>C , CM000674.1:g.110032818A>C	GRCh37
NC_000012.10:g.108517201A>C	NCBI36
NG_007702.1:g.26319A>C , LRG_156:g.26319A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.43-15A>C	ENSP00000439134.1:n.43-15A>C
ENST00000546277.6:c.886-15A>C	ENSP00000438153.2:n.886-15A>C
ENST00000636529.2:n.525-15A>C
ENST00000697195.1:c.*650-15A>C	ENSP00000513181.1:n.*650-15A>C
ENST00000697196.1:c.*59-15A>C	ENSP00000513182.1:n.*59-15A>C
ENST00000697197.1:n.2915-15A>C
ENST00000697198.1:n.1255A>C
ENST00000228510.8:c.886-15A>C MANE Select	ENSP00000228510.3:n.886-15A>C
ENST00000636529.1:c.511-15A>C
ENST00000636996.1:c.734-15A>C
ENST00000228510.7:c.886-15A>C	ENSP00000228510.3:n.886-15A>C
ENST00000392727.7:c.730-15A>C	ENSP00000376487.3:n.730-15A>C
ENST00000447878.6:c.*333-15A>C	ENSP00000415555.2:n.*333-15A>C
ENST00000537237.5:c.*559-15A>C	ENSP00000445382.1:n.*559-15A>C
ENST00000539575.4:c.886-15A>C	ENSP00000443551.2:n.886-15A>C
ENST00000539696.5:c.43-15A>C	ENSP00000439134.1:n.43-15A>C
ENST00000540353.1:n.3119-15A>C
ENST00000625889.2:c.730-15A>C	ENSP00000486846.1:n.730-15A>C
ENST00000629016.2:c.*333-15A>C	ENSP00000486804.1:n.*333-15A>C
NM_000431.3:c.886-15A>C	NP_000422.1:n.886-15A>C
NM_001114185.2:c.886-15A>C	NP_001107657.1:n.886-15A>C
NM_001301182.1:c.730-15A>C	NP_001288111.1:n.730-15A>C
XM_011538372.1:c.886-15A>C	XP_011536674.1:n.886-15A>C
XM_017019313.2:c.730-15A>C	XP_016874802.1:n.730-15A>C
XM_017019314.1:c.886-15A>C	XP_016874803.1:n.886-15A>C
NM_000431.4:c.886-15A>C MANE Select	NP_000422.1:n.886-15A>C
NM_001114185.3:c.886-15A>C	NP_001107657.1:n.886-15A>C
NM_001301182.2:c.730-15A>C	NP_001288111.1:n.730-15A>C