Canonical Allele Identifier: CA2620819098

Gene: MVK

Linked Data

• gnomAD v4: 12-109596807-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596807G>T , CM000674.2:g.109596807G>T	GRCh38
NC_000012.11:g.110034612G>T , CM000674.1:g.110034612G>T	GRCh37
NC_000012.10:g.108518995G>T	NCBI36
NG_007702.1:g.28113G>T , LRG_156:g.28113G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.*230G>T	ENSP00000439134.1:n.*230G>T
ENST00000546277.6:c.*230G>T	ENSP00000438153.2:n.*230G>T
ENST00000636529.2:n.1060G>T
ENST00000697195.1:c.*1185G>T	ENSP00000513181.1:n.*1185G>T
ENST00000697196.1:c.*594G>T	ENSP00000513182.1:n.*594G>T
ENST00000697197.1:n.3450G>T
ENST00000697198.1:n.1805G>T
ENST00000228510.8:c.*230G>T MANE Select	ENSP00000228510.3:n.*230G>T
ENST00000636529.1:c.1046G>T
ENST00000636996.1:c.1269G>T
ENST00000228510.7:c.*230G>T	ENSP00000228510.3:n.*230G>T
ENST00000392727.7:c.*230G>T	ENSP00000376487.3:n.*230G>T
ENST00000447878.6:c.*868G>T	ENSP00000415555.2:n.*868G>T
ENST00000539575.4:c.*230G>T	ENSP00000443551.2:n.*230G>T
ENST00000540353.1:n.3654G>T
ENST00000625889.2:c.*230G>T	ENSP00000486846.1:n.*230G>T
ENST00000629016.2:c.*868G>T	ENSP00000486804.1:n.*868G>T
NM_000431.3:c.*230G>T	NP_000422.1:n.*230G>T
NM_001114185.2:c.*230G>T	NP_001107657.1:n.*230G>T
NM_001301182.1:c.*230G>T	NP_001288111.1:n.*230G>T
XM_011538372.1:c.*230G>T	XP_011536674.1:n.*230G>T
XM_017019313.2:c.*230G>T	XP_016874802.1:n.*230G>T
XM_017019314.1:c.*230G>T	XP_016874803.1:n.*230G>T
NM_000431.4:c.*230G>T MANE Select	NP_000422.1:n.*230G>T
NM_001114185.3:c.*230G>T	NP_001107657.1:n.*230G>T
NM_001301182.2:c.*230G>T	NP_001288111.1:n.*230G>T