Canonical Allele Identifier: CA386641676

Gene: MVK MMAB

Linked Data

• ClinVar Variation Id: 1066680
• ClinVar RCV Id: RCV001377746
• dbSNP Id: rs869320655
• MyVariant Identifiers: chr12:g.110011284A>C (hg19) ; chr12:g.109573479A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573479A>C , CM000674.2:g.109573479A>C	GRCh38
NC_000012.11:g.110011284A>C , CM000674.1:g.110011284A>C	GRCh37
NC_000012.10:g.108495667A>C	NCBI36
NG_007096.1:g.5019T>G
NG_007702.1:g.4785A>C , LRG_156:g.4785A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546277.6:c.-107A>C (MVK)	ENSP00000438153.2:n.-107A>C
ENST00000545712.7:c.2T>G (MMAB) MANE Select	ENSP00000445920.1:p.Met1Arg
ENST00000420167.6:c.2T>G (MMAB)	ENSP00000416136.2:p.Met1Arg
ENST00000503497.7:c.2T>G (MMAB)	ENSP00000474881.1:p.Met1Arg
ENST00000535044.1:n.139A>C (MVK)
ENST00000536760.1:n.5T>G (MMAB)
ENST00000537236.2:c.2T>G (MMAB)	ENSP00000483818.1:p.Met1Arg
ENST00000537496.5:c.2T>G (MMAB)	ENSP00000444793.1:p.Met1Arg
ENST00000539335.5:c.-98A>C (MVK)	ENSP00000440379.1:n.-98A>C
ENST00000540016.5:c.2T>G (MMAB)	ENSP00000474582.1:p.Met1Arg
ENST00000541763.6:c.2T>G (MMAB)	ENSP00000474981.1:p.Met1Arg
ENST00000542390.5:n.29T>G (MMAB)
ENST00000544051.5:c.2T>G (MMAB)	ENSP00000438079.1:p.Met1Arg
ENST00000545712.6:c.2T>G (MMAB)	ENSP00000445920.1:p.Met1Arg
ENST00000546277.5:c.-107A>C (MVK)	ENSP00000438153.1:n.-107A>C
NM_052845.3:c.2T>G (MMAB)	NP_443077.1:p.Met1Arg
NR_038118.1:n.75T>G (MMAB)
XM_011538372.1:c.-107A>C (MVK)	XP_011536674.1:n.-107A>C
XM_024448961.1:c.2T>G (MMAB)	XP_024304729.1:p.Met1Arg
XM_024448982.1:c.-107A>C (MVK)	XP_024304750.1:n.-107A>C
NM_052845.4:c.2T>G (MMAB) MANE Select	NP_443077.1:p.Met1Arg
NR_038118.2:n.26T>G (MMAB)