Canonical Allele Identifier: CA386649092

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110028640G>C (hg19) ; chr12:g.109590835G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590835G>C , CM000674.2:g.109590835G>C	GRCh38
NC_000012.11:g.110028640G>C , CM000674.1:g.110028640G>C	GRCh37
NC_000012.10:g.108513023G>C	NCBI36
NG_007702.1:g.22141G>C , LRG_156:g.22141G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-11G>C	ENSP00000439134.1:n.-91-11G>C
ENST00000546277.6:c.742G>C	ENSP00000438153.2:p.Ala248Pro
ENST00000636529.2:n.381G>C
ENST00000697195.1:c.*506G>C	ENSP00000513181.1:n.*506G>C
ENST00000697196.1:c.830G>C	ENSP00000513182.1:p.Gly277Ala
ENST00000697197.1:n.2392G>C
ENST00000228510.8:c.742G>C MANE Select	ENSP00000228510.3:p.Ala248Pro
ENST00000636529.1:c.367G>C
ENST00000636996.1:c.590G>C
ENST00000228510.7:c.742G>C	ENSP00000228510.3:p.Ala248Pro
ENST00000392727.7:c.586G>C	ENSP00000376487.3:p.Ala196Pro
ENST00000447878.6:c.*189G>C	ENSP00000415555.2:n.*189G>C
ENST00000537237.5:c.*442-406G>C	ENSP00000445382.1:n.*442-406G>C
ENST00000539575.4:c.742G>C	ENSP00000443551.2:p.Ala248Pro
ENST00000539696.5:c.-91-11G>C	ENSP00000439134.1:n.-91-11G>C
ENST00000540353.1:n.2975G>C
ENST00000625889.2:c.586G>C	ENSP00000486846.1:p.Ala196Pro
ENST00000629016.2:c.*189G>C	ENSP00000486804.1:n.*189G>C
NM_000431.3:c.742G>C	NP_000422.1:p.Ala248Pro
NM_001114185.2:c.742G>C	NP_001107657.1:p.Ala248Pro
NM_001301182.1:c.586G>C	NP_001288111.1:p.Ala196Pro
XM_011538372.1:c.742G>C	XP_011536674.1:p.Ala248Pro
XM_017019313.2:c.586G>C	XP_016874802.1:p.Ala196Pro
XM_017019314.1:c.742G>C	XP_016874803.1:p.Ala248Pro
XM_024448982.1:c.742G>C	XP_024304750.1:p.Ala248Pro
NM_000431.4:c.742G>C MANE Select	NP_000422.1:p.Ala248Pro
NM_001114185.3:c.742G>C	NP_001107657.1:p.Ala248Pro
NM_001301182.2:c.586G>C	NP_001288111.1:p.Ala196Pro