Canonical Allele Identifier: CA243462959

Gene: MVK

Linked Data

• dbSNP Id: rs1001520216
• gnomAD v4: 12-109596902-T-C
• MyVariant Identifiers: chr12:g.110034707T>C (hg19) ; chr12:g.109596902T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596902T>C , CM000674.2:g.109596902T>C	GRCh38
NC_000012.11:g.110034707T>C , CM000674.1:g.110034707T>C	GRCh37
NC_000012.10:g.108519090T>C	NCBI36
NG_007702.1:g.28208T>C , LRG_156:g.28208T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.*325T>C	ENSP00000439134.1:n.*325T>C
ENST00000546277.6:c.*325T>C	ENSP00000438153.2:n.*325T>C
ENST00000636529.2:n.1155T>C
ENST00000697195.1:c.*1280T>C	ENSP00000513181.1:n.*1280T>C
ENST00000697196.1:c.*689T>C	ENSP00000513182.1:n.*689T>C
ENST00000697197.1:n.3545T>C
ENST00000697198.1:n.1900T>C
ENST00000228510.8:c.*325T>C MANE Select	ENSP00000228510.3:n.*325T>C
ENST00000636529.1:c.1141T>C
ENST00000636996.1:c.1364T>C
ENST00000228510.7:c.*325T>C	ENSP00000228510.3:n.*325T>C
ENST00000392727.7:c.*325T>C	ENSP00000376487.3:n.*325T>C
ENST00000447878.6:c.*963T>C	ENSP00000415555.2:n.*963T>C
ENST00000539575.4:c.*325T>C	ENSP00000443551.2:n.*325T>C
ENST00000540353.1:n.3749T>C
ENST00000625889.2:c.*325T>C	ENSP00000486846.1:n.*325T>C
ENST00000629016.2:c.*963T>C	ENSP00000486804.1:n.*963T>C
NM_000431.3:c.*325T>C	NP_000422.1:n.*325T>C
NM_001114185.2:c.*325T>C	NP_001107657.1:n.*325T>C
NM_001301182.1:c.*325T>C	NP_001288111.1:n.*325T>C
XM_011538372.1:c.*325T>C	XP_011536674.1:n.*325T>C
XM_017019313.2:c.*325T>C	XP_016874802.1:n.*325T>C
XM_017019314.1:c.*325T>C	XP_016874803.1:n.*325T>C
NM_000431.4:c.*325T>C MANE Select	NP_000422.1:n.*325T>C
NM_001114185.3:c.*325T>C	NP_001107657.1:n.*325T>C
NM_001301182.2:c.*325T>C	NP_001288111.1:n.*325T>C