Canonical Allele Identifier: CA386643002

Gene: MVK

Linked Data

• gnomAD v4: 12-109574896-G-C
• MyVariant Identifiers: chr12:g.110012701G>C (hg19) ; chr12:g.109574896G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109574896G>C , CM000674.2:g.109574896G>C	GRCh38
NC_000012.11:g.110012701G>C , CM000674.1:g.110012701G>C	GRCh37
NC_000012.10:g.108497084G>C	NCBI36
NG_007096.1:g.3602C>G
NG_007702.1:g.6202G>C , LRG_156:g.6202G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-92+1023G>C	ENSP00000439134.1:n.-92+1023G>C
ENST00000546277.6:c.74G>C	ENSP00000438153.2:p.Gly25Ala
ENST00000636529.2:n.74G>C
ENST00000697195.1:c.74G>C	ENSP00000513181.1:p.Gly25Ala
ENST00000697196.1:c.74G>C	ENSP00000513182.1:p.Gly25Ala
ENST00000228510.8:c.74G>C MANE Select	ENSP00000228510.3:p.Gly25Ala
ENST00000636529.1:c.60G>C
ENST00000636996.1:c.67G>C
ENST00000639206.1:c.74G>C	ENSP00000492778.1:p.Gly25Ala
ENST00000228510.7:c.74G>C	ENSP00000228510.3:p.Gly25Ala
ENST00000392727.7:c.74G>C	ENSP00000376487.3:p.Gly25Ala
ENST00000447878.6:c.74G>C	ENSP00000415555.2:p.Gly25Ala
ENST00000535044.1:n.319G>C
ENST00000537237.5:c.74G>C	ENSP00000445382.1:p.Gly25Ala
ENST00000539335.5:c.74G>C	ENSP00000440379.1:p.Gly25Ala
ENST00000539575.4:c.74G>C	ENSP00000443551.2:p.Gly25Ala
ENST00000539696.5:c.-92+1023G>C	ENSP00000439134.1:n.-92+1023G>C
ENST00000545774.5:c.74G>C	ENSP00000443978.1:p.Gly25Ala
ENST00000546277.5:c.74G>C	ENSP00000438153.1:p.Gly25Ala
ENST00000625889.2:c.74G>C	ENSP00000486846.1:p.Gly25Ala
ENST00000629016.2:c.74G>C	ENSP00000486804.1:p.Gly25Ala
NM_000431.3:c.74G>C	NP_000422.1:p.Gly25Ala
NM_001114185.2:c.74G>C	NP_001107657.1:p.Gly25Ala
NM_001301182.1:c.74G>C	NP_001288111.1:p.Gly25Ala
XM_011538372.1:c.74G>C	XP_011536674.1:p.Gly25Ala
XM_017019313.2:c.74G>C	XP_016874802.1:p.Gly25Ala
XM_017019314.1:c.74G>C	XP_016874803.1:p.Gly25Ala
XM_024448982.1:c.74G>C	XP_024304750.1:p.Gly25Ala
NM_000431.4:c.74G>C MANE Select	NP_000422.1:p.Gly25Ala
NM_001114185.3:c.74G>C	NP_001107657.1:p.Gly25Ala
NM_001301182.2:c.74G>C	NP_001288111.1:p.Gly25Ala