Canonical Allele Identifier: CA412104603

Gene: MLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50061585A>G , CM000684.2:g.50061585A>G	GRCh38
NC_000022.10:g.50500014A>G , CM000684.1:g.50500014A>G	GRCh37
NC_000022.9:g.48842141A>G	NCBI36
NG_009162.1:g.29345T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015166.4:c.1132T>C MANE Select	NP_055981.1:p.Ter378Arg
ENST00000311597.10:c.1132T>C MANE Select	ENSP00000310375.6:p.Ter378Arg
NM_001376472.1:c.1132T>C	NP_001363401.1:p.Ter378Arg
NM_001376473.1:c.1132T>C	NP_001363402.1:p.Ter378Arg
NM_001376474.1:c.1132T>C	NP_001363403.1:p.Ter378Arg
NM_001376475.1:c.1132T>C	NP_001363404.1:p.Ter378Arg
NM_001376476.1:c.1132T>C	NP_001363405.1:p.Ter378Arg
NM_001376477.1:c.1132T>C	NP_001363406.1:p.Ter378Arg
NM_001376478.1:c.1132T>C	NP_001363407.1:p.Ter378Arg
NM_001376479.1:c.1075T>C	NP_001363408.1:p.Ter359Arg
NM_001376480.1:c.1042T>C	NP_001363409.1:p.Ter348Arg
NM_001376481.1:c.1030T>C	NP_001363410.1:p.Ter344Arg
NM_001376482.1:c.976T>C	NP_001363411.1:p.Ter326Arg
NM_001376483.1:c.976T>C	NP_001363412.1:p.Ter326Arg
NM_001376484.1:c.895T>C	NP_001363413.1:p.Ter299Arg
NM_015166.3:c.1132T>C	NP_055981.1:p.Ter378Arg
NM_139202.2:c.1132T>C	NP_631941.1:p.Ter378Arg
NM_139202.3:c.1132T>C	NP_631941.1:p.Ter378Arg
NR_164811.1:n.1479T>C
NR_164812.1:n.1263T>C
NR_164813.1:n.1656T>C
ENST00000311597.9:c.1132T>C	ENSP00000310375.5:p.Ter378Arg
ENST00000395876.6:c.1132T>C	ENSP00000379216.2:p.Ter378Arg
ENST00000483836.1:n.489T>C
XM_011530678.1:c.967T>C	XP_011528980.1:p.Ter323Arg
XM_011530678.2:c.967T>C	XP_011528980.1:p.Ter323Arg
XM_017028671.1:c.1132T>C	XP_016884160.1:p.Ter378Arg
XR_001755180.2:n.1637T>C
XR_001755181.2:n.1405T>C
XR_430476.2:n.1527T>C