Canonical Allele Identifier: CA2838205919

Gene: MLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120700710T>G , CM000674.2:g.120700710T>G	GRCh38
NC_000012.11:g.121138513T>G , CM000674.1:g.121138513T>G	GRCh37
NC_000012.10:g.119622896T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228506.8:c.*4165T>G MANE Select	ENSP00000228506.3:n.*4165T>G
ENST00000228506.7:c.*4165T>G	ENSP00000228506.3:n.*4165T>G
ENST00000535413.1:n.386T>G
NM_001303627.1:c.*4165T>G	NP_001290556.1:n.*4165T>G
NM_001303628.1:c.*4155T>G	NP_001290557.1:n.*4155T>G
NM_014730.3:c.*4165T>G	NP_055545.1:n.*4165T>G
XM_011539031.1:c.*4165T>G	XP_011537333.1:n.*4165T>G
XM_011539032.1:c.*4165T>G	XP_011537334.1:n.*4165T>G
XM_011539033.1:c.*4165T>G	XP_011537335.1:n.*4165T>G
XM_011539034.1:c.*4165T>G	XP_011537336.1:n.*4165T>G
XR_945447.1:n.3020A>C
XR_945448.1:n.2993A>C
NM_014730.4:c.*4165T>G MANE Select	NP_055545.1:n.*4165T>G
NM_001303628.2:c.*4155T>G	NP_001290557.1:n.*4155T>G
NM_001303627.2:c.*4165T>G	NP_001290556.1:n.*4165T>G