Canonical Allele Identifier: CA130485
Gene: MVK HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.109590857T>C
GRCh37 chr12:g.110028662T>C
Revel Score:
ENST00000228510 (MANE Select) 0.740
ENST00000392727 0.740
ENST00000539575 0.740
ENST00000541384 0.740
ClinVar RCV:
RCV000032936
ClinVar Variation:
39724
dbSNP:
397514570
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109590857T>C , CM000674.2:g.109590857T>C GRCh38
NC_000012.11:g.110028662T>C , CM000674.1:g.110028662T>C GRCh37
NC_000012.10:g.108513045T>C NCBI36
NG_007702.1:g.22163T>C , LRG_156:g.22163T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.-80T>C ENSP00000439134.1:n.-80T>C
ENST00000546277.6:c.764T>C ENSP00000438153.2:p.Leu255Pro
ENST00000636529.2:n.403T>C
ENST00000697195.1:c.*528T>C ENSP00000513181.1:n.*528T>C
ENST00000697196.1:c.852T>C ENSP00000513182.1:p.Ala284=
ENST00000697197.1:n.2414T>C
ENST00000228510.8:c.764T>C MANE Select ENSP00000228510.3:p.Leu255Pro
ENST00000636529.1:c.389T>C
ENST00000636996.1:c.612T>C
ENST00000228510.7:c.764T>C ENSP00000228510.3:p.Leu255Pro
ENST00000392727.7:c.608T>C ENSP00000376487.3:p.Leu203Pro
ENST00000447878.6:c.*211T>C ENSP00000415555.2:n.*211T>C
ENST00000537237.5:c.*442-384T>C ENSP00000445382.1:n.*442-384T>C
ENST00000539575.4:c.764T>C ENSP00000443551.2:p.Leu255Pro
ENST00000539696.5:c.-80T>C ENSP00000439134.1:n.-80T>C
ENST00000540353.1:n.2997T>C
ENST00000625889.2:c.608T>C ENSP00000486846.1:p.Leu203Pro
ENST00000629016.2:c.*211T>C ENSP00000486804.1:n.*211T>C
NM_000431.3:c.764T>C NP_000422.1:p.Leu255Pro
NM_001114185.2:c.764T>C NP_001107657.1:p.Leu255Pro
NM_001301182.1:c.608T>C NP_001288111.1:p.Leu203Pro
XM_011538372.1:c.764T>C XP_011536674.1:p.Leu255Pro
XM_017019313.2:c.608T>C XP_016874802.1:p.Leu203Pro
XM_017019314.1:c.764T>C XP_016874803.1:p.Leu255Pro
XM_024448982.1:c.764T>C XP_024304750.1:p.Leu255Pro
NM_000431.4:c.764T>C MANE Select NP_000422.1:p.Leu255Pro
NM_001114185.3:c.764T>C NP_001107657.1:p.Leu255Pro
NM_001301182.2:c.608T>C NP_001288111.1:p.Leu203Pro
Search 100 bp 5'
Search 100 bp 3'