Canonical Allele Identifier: CA386641683

Gene: MVK MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573480T>G , CM000674.2:g.109573480T>G	GRCh38
NC_000012.11:g.110011285T>G , CM000674.1:g.110011285T>G	GRCh37
NC_000012.10:g.108495668T>G	NCBI36
NG_007096.1:g.5018A>C
NG_007702.1:g.4786T>G , LRG_156:g.4786T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.1A>C (MMAB) MANE Select	NP_443077.1:p.Met1Leu
ENST00000545712.7:c.1A>C (MMAB) MANE Select	ENSP00000445920.1:p.Met1Leu
NM_052845.3:c.1A>C (MMAB)	NP_443077.1:p.Met1Leu
NR_038118.1:n.74A>C (MMAB)
NR_038118.2:n.25A>C (MMAB)
ENST00000420167.6:c.1A>C (MMAB)	ENSP00000416136.2:p.Met1Leu
ENST00000503497.7:c.1A>C (MMAB)	ENSP00000474881.1:p.Met1Leu
ENST00000535044.1:n.140T>G (MVK)
ENST00000536760.1:n.4A>C (MMAB)
ENST00000537236.2:c.1A>C (MMAB)	ENSP00000483818.1:p.Met1Leu
ENST00000537496.5:c.1A>C (MMAB)	ENSP00000444793.1:p.Met1Leu
ENST00000539335.5:c.-97T>G (MVK)	ENSP00000440379.1:n.-97T>G
ENST00000540016.5:c.1A>C (MMAB)	ENSP00000474582.1:p.Met1Leu
ENST00000541763.6:c.1A>C (MMAB)	ENSP00000474981.1:p.Met1Leu
ENST00000542390.5:n.28A>C (MMAB)
ENST00000544051.5:c.1A>C (MMAB)	ENSP00000438079.1:p.Met1Leu
ENST00000545712.6:c.1A>C (MMAB)	ENSP00000445920.1:p.Met1Leu
ENST00000546277.5:c.-106T>G (MVK)	ENSP00000438153.1:n.-106T>G
ENST00000546277.6:c.-106T>G (MVK)	ENSP00000438153.2:n.-106T>G
XM_011538372.1:c.-106T>G (MVK)	XP_011536674.1:n.-106T>G
XM_024448961.1:c.1A>C (MMAB)	XP_024304729.1:p.Met1Leu
XM_024448982.1:c.-106T>G (MVK)	XP_024304750.1:n.-106T>G