Canonical Allele Identifier: CA2575285942

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109594964G>C , CM000674.2:g.109594964G>C	GRCh38
NC_000012.11:g.110032769G>C , CM000674.1:g.110032769G>C	GRCh37
NC_000012.10:g.108517152G>C	NCBI36
NG_007702.1:g.26270G>C , LRG_156:g.26270G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.43-64G>C	ENSP00000439134.1:n.43-64G>C
ENST00000546277.6:c.886-64G>C	ENSP00000438153.2:n.886-64G>C
ENST00000636529.2:n.525-64G>C
ENST00000697195.1:c.*650-64G>C	ENSP00000513181.1:n.*650-64G>C
ENST00000697196.1:c.*59-64G>C	ENSP00000513182.1:n.*59-64G>C
ENST00000697197.1:n.2915-64G>C
ENST00000697198.1:n.1206G>C
ENST00000228510.8:c.886-64G>C MANE Select	ENSP00000228510.3:n.886-64G>C
ENST00000636529.1:c.511-64G>C
ENST00000636996.1:c.734-64G>C
ENST00000228510.7:c.886-64G>C	ENSP00000228510.3:n.886-64G>C
ENST00000392727.7:c.730-64G>C	ENSP00000376487.3:n.730-64G>C
ENST00000447878.6:c.*333-64G>C	ENSP00000415555.2:n.*333-64G>C
ENST00000537237.5:c.*559-64G>C	ENSP00000445382.1:n.*559-64G>C
ENST00000539575.4:c.886-64G>C	ENSP00000443551.2:n.886-64G>C
ENST00000539696.5:c.43-64G>C	ENSP00000439134.1:n.43-64G>C
ENST00000540353.1:n.3119-64G>C
ENST00000625889.2:c.730-64G>C	ENSP00000486846.1:n.730-64G>C
ENST00000629016.2:c.*333-64G>C	ENSP00000486804.1:n.*333-64G>C
NM_000431.3:c.886-64G>C	NP_000422.1:n.886-64G>C
NM_001114185.2:c.886-64G>C	NP_001107657.1:n.886-64G>C
NM_001301182.1:c.730-64G>C	NP_001288111.1:n.730-64G>C
XM_011538372.1:c.886-64G>C	XP_011536674.1:n.886-64G>C
XM_017019313.2:c.730-64G>C	XP_016874802.1:n.730-64G>C
XM_017019314.1:c.886-64G>C	XP_016874803.1:n.886-64G>C
NM_000431.4:c.886-64G>C MANE Select	NP_000422.1:n.886-64G>C
NM_001114185.3:c.886-64G>C	NP_001107657.1:n.886-64G>C
NM_001301182.2:c.730-64G>C	NP_001288111.1:n.730-64G>C