Canonical Allele Identifier: CA2620818505

Gene: MVK

Linked Data

• gnomAD v4: 12-109591405-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591405T>C , CM000674.2:g.109591405T>C	GRCh38
NC_000012.11:g.110029210T>C , CM000674.1:g.110029210T>C	GRCh37
NC_000012.10:g.108513593T>C	NCBI36
NG_007702.1:g.22711T>C , LRG_156:g.22711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+48T>C	ENSP00000439134.1:n.42+48T>C
ENST00000546277.6:c.885+48T>C	ENSP00000438153.2:n.885+48T>C
ENST00000636529.2:n.524+48T>C
ENST00000697195.1:c.*649+48T>C	ENSP00000513181.1:n.*649+48T>C
ENST00000697196.1:c.*58+48T>C	ENSP00000513182.1:n.*58+48T>C
ENST00000697197.1:n.2914+48T>C
ENST00000228510.8:c.885+48T>C MANE Select	ENSP00000228510.3:n.885+48T>C
ENST00000636529.1:c.510+48T>C
ENST00000636996.1:c.733+48T>C
ENST00000228510.7:c.885+48T>C	ENSP00000228510.3:n.885+48T>C
ENST00000392727.7:c.729+48T>C	ENSP00000376487.3:n.729+48T>C
ENST00000447878.6:c.*332+48T>C	ENSP00000415555.2:n.*332+48T>C
ENST00000537237.5:c.*558+48T>C	ENSP00000445382.1:n.*558+48T>C
ENST00000539575.4:c.885+48T>C	ENSP00000443551.2:n.885+48T>C
ENST00000539696.5:c.42+48T>C	ENSP00000439134.1:n.42+48T>C
ENST00000540353.1:n.3118+48T>C
ENST00000625889.2:c.729+48T>C	ENSP00000486846.1:n.729+48T>C
ENST00000629016.2:c.*332+48T>C	ENSP00000486804.1:n.*332+48T>C
NM_000431.3:c.885+48T>C	NP_000422.1:n.885+48T>C
NM_001114185.2:c.885+48T>C	NP_001107657.1:n.885+48T>C
NM_001301182.1:c.729+48T>C	NP_001288111.1:n.729+48T>C
XM_011538372.1:c.885+48T>C	XP_011536674.1:n.885+48T>C
XM_017019313.2:c.729+48T>C	XP_016874802.1:n.729+48T>C
XM_017019314.1:c.885+48T>C	XP_016874803.1:n.885+48T>C
XM_024448982.1:c.933T>C	XP_024304750.1:p.Cys311=
NM_000431.4:c.885+48T>C MANE Select	NP_000422.1:n.885+48T>C
NM_001114185.3:c.885+48T>C	NP_001107657.1:n.885+48T>C
NM_001301182.2:c.729+48T>C	NP_001288111.1:n.729+48T>C