Canonical Allele Identifier: CA386649217

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110029055A>C (hg19) ; chr12:g.109591250A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591250A>C , CM000674.2:g.109591250A>C	GRCh38
NC_000012.11:g.110029055A>C , CM000674.1:g.110029055A>C	GRCh37
NC_000012.10:g.108513438A>C	NCBI36
NG_007702.1:g.22556A>C , LRG_156:g.22556A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-66A>C	ENSP00000439134.1:n.-66A>C
ENST00000546277.6:c.778A>C	ENSP00000438153.2:p.Ile260Leu
ENST00000636529.2:n.417A>C
ENST00000697195.1:c.*542A>C	ENSP00000513181.1:n.*542A>C
ENST00000697196.1:c.866A>C	ENSP00000513182.1:p.Asp289Ala
ENST00000697197.1:n.2807A>C
ENST00000228510.8:c.778A>C MANE Select	ENSP00000228510.3:p.Ile260Leu
ENST00000636529.1:c.403A>C
ENST00000636996.1:c.626A>C
ENST00000228510.7:c.778A>C	ENSP00000228510.3:p.Ile260Leu
ENST00000392727.7:c.622A>C	ENSP00000376487.3:p.Ile208Leu
ENST00000447878.6:c.*225A>C	ENSP00000415555.2:n.*225A>C
ENST00000537237.5:c.*451A>C	ENSP00000445382.1:n.*451A>C
ENST00000539575.4:c.778A>C	ENSP00000443551.2:p.Ile260Leu
ENST00000539696.5:c.-66A>C	ENSP00000439134.1:n.-66A>C
ENST00000540353.1:n.3011A>C
ENST00000625889.2:c.622A>C	ENSP00000486846.1:p.Ile208Leu
ENST00000629016.2:c.*225A>C	ENSP00000486804.1:n.*225A>C
NM_000431.3:c.778A>C	NP_000422.1:p.Ile260Leu
NM_001114185.2:c.778A>C	NP_001107657.1:p.Ile260Leu
NM_001301182.1:c.622A>C	NP_001288111.1:p.Ile208Leu
XM_011538372.1:c.778A>C	XP_011536674.1:p.Ile260Leu
XM_017019313.2:c.622A>C	XP_016874802.1:p.Ile208Leu
XM_017019314.1:c.778A>C	XP_016874803.1:p.Ile260Leu
XM_024448982.1:c.778A>C	XP_024304750.1:p.Ile260Leu
NM_000431.4:c.778A>C MANE Select	NP_000422.1:p.Ile260Leu
NM_001114185.3:c.778A>C	NP_001107657.1:p.Ile260Leu
NM_001301182.2:c.622A>C	NP_001288111.1:p.Ile208Leu