Canonical Allele Identifier: CA243459559

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590947G>C , CM000674.2:g.109590947G>C	GRCh38
NC_000012.11:g.110028752G>C , CM000674.1:g.110028752G>C	GRCh37
NC_000012.10:g.108513135G>C	NCBI36
NG_007702.1:g.22253G>C , LRG_156:g.22253G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000431.4:c.768+86G>C MANE Select	NP_000422.1:n.768+86G>C
ENST00000228510.8:c.768+86G>C MANE Select	ENSP00000228510.3:n.768+86G>C
NM_000431.3:c.768+86G>C	NP_000422.1:n.768+86G>C
NM_001114185.2:c.768+86G>C	NP_001107657.1:n.768+86G>C
NM_001114185.3:c.768+86G>C	NP_001107657.1:n.768+86G>C
NM_001301182.1:c.612+86G>C	NP_001288111.1:n.612+86G>C
NM_001301182.2:c.612+86G>C	NP_001288111.1:n.612+86G>C
ENST00000228510.7:c.768+86G>C	ENSP00000228510.3:n.768+86G>C
ENST00000392727.7:c.612+86G>C	ENSP00000376487.3:n.612+86G>C
ENST00000447878.6:c.*215+86G>C	ENSP00000415555.2:n.*215+86G>C
ENST00000537237.5:c.*442-294G>C	ENSP00000445382.1:n.*442-294G>C
ENST00000539575.4:c.768+86G>C	ENSP00000443551.2:n.768+86G>C
ENST00000539696.5:c.-76+86G>C	ENSP00000439134.1:n.-76+86G>C
ENST00000539696.6:c.-76+86G>C	ENSP00000439134.1:n.-76+86G>C
ENST00000540353.1:n.3001+86G>C
ENST00000546277.6:c.768+86G>C	ENSP00000438153.2:n.768+86G>C
ENST00000625889.2:c.612+86G>C	ENSP00000486846.1:n.612+86G>C
ENST00000629016.2:c.*215+86G>C	ENSP00000486804.1:n.*215+86G>C
ENST00000636529.1:c.393+86G>C
ENST00000636529.2:n.407+86G>C
ENST00000636996.1:c.616+86G>C
ENST00000697195.1:c.*532+86G>C	ENSP00000513181.1:n.*532+86G>C
ENST00000697196.1:c.856+86G>C	ENSP00000513182.1:n.856+86G>C
ENST00000697197.1:n.2504G>C
XM_011538372.1:c.768+86G>C	XP_011536674.1:n.768+86G>C
XM_017019313.2:c.612+86G>C	XP_016874802.1:n.612+86G>C
XM_017019314.1:c.768+86G>C	XP_016874803.1:n.768+86G>C
XM_024448982.1:c.768+86G>C	XP_024304750.1:n.768+86G>C