Canonical Allele Identifier: CA386651473

Gene: MVK

Linked Data

• dbSNP Id: rs2136257762
• gnomAD v4: 12-109596554-C-T
• MyVariant Identifiers: chr12:g.110034359C>T (hg19) ; chr12:g.109596554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596554C>T , CM000674.2:g.109596554C>T	GRCh38
NC_000012.11:g.110034359C>T , CM000674.1:g.110034359C>T	GRCh37
NC_000012.10:g.108518742C>T	NCBI36
NG_007702.1:g.27860C>T , LRG_156:g.27860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.325C>T	ENSP00000439134.1:p.Gln109Ter
ENST00000546277.6:c.1168C>T	ENSP00000438153.2:p.Gln390Ter
ENST00000636529.2:n.807C>T
ENST00000697195.1:c.*932C>T	ENSP00000513181.1:n.*932C>T
ENST00000697196.1:c.*341C>T	ENSP00000513182.1:n.*341C>T
ENST00000697197.1:n.3197C>T
ENST00000697198.1:n.1552C>T
ENST00000228510.8:c.1168C>T MANE Select	ENSP00000228510.3:p.Gln390Ter
ENST00000636529.1:c.793C>T
ENST00000636996.1:c.1016C>T
ENST00000228510.7:c.1168C>T	ENSP00000228510.3:p.Gln390Ter
ENST00000392727.7:c.1012C>T	ENSP00000376487.3:p.Gln338Ter
ENST00000447878.6:c.*615C>T	ENSP00000415555.2:n.*615C>T
ENST00000537237.5:c.*841C>T	ENSP00000445382.1:n.*841C>T
ENST00000539575.4:c.1168C>T	ENSP00000443551.2:p.Gln390Ter
ENST00000539696.5:c.325C>T	ENSP00000439134.1:p.Gln109Ter
ENST00000540353.1:n.3401C>T
ENST00000625889.2:c.1012C>T	ENSP00000486846.1:p.Gln338Ter
ENST00000629016.2:c.*615C>T	ENSP00000486804.1:n.*615C>T
NM_000431.3:c.1168C>T	NP_000422.1:p.Gln390Ter
NM_001114185.2:c.1168C>T	NP_001107657.1:p.Gln390Ter
NM_001301182.1:c.1012C>T	NP_001288111.1:p.Gln338Ter
XM_011538372.1:c.1168C>T	XP_011536674.1:p.Gln390Ter
XM_017019313.2:c.1012C>T	XP_016874802.1:p.Gln338Ter
XM_017019314.1:c.1168C>T	XP_016874803.1:p.Gln390Ter
NM_000431.4:c.1168C>T MANE Select	NP_000422.1:p.Gln390Ter
NM_001114185.3:c.1168C>T	NP_001107657.1:p.Gln390Ter
NM_001301182.2:c.1012C>T	NP_001288111.1:p.Gln338Ter