Canonical Allele Identifier: CA412107489

Gene: MLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50068435T>A , CM000684.2:g.50068435T>A	GRCh38
NC_000022.10:g.50506864T>A , CM000684.1:g.50506864T>A	GRCh37
NC_000022.9:g.48848991T>A	NCBI36
NG_009162.1:g.22495A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015166.4:c.892A>T MANE Select	NP_055981.1:p.Lys298Ter
ENST00000311597.10:c.892A>T MANE Select	ENSP00000310375.6:p.Lys298Ter
NM_001376472.1:c.892A>T	NP_001363401.1:p.Lys298Ter
NM_001376473.1:c.892A>T	NP_001363402.1:p.Lys298Ter
NM_001376474.1:c.892A>T	NP_001363403.1:p.Lys298Ter
NM_001376475.1:c.892A>T	NP_001363404.1:p.Lys298Ter
NM_001376476.1:c.892A>T	NP_001363405.1:p.Lys298Ter
NM_001376477.1:c.892A>T	NP_001363406.1:p.Lys298Ter
NM_001376478.1:c.892A>T	NP_001363407.1:p.Lys298Ter
NM_001376479.1:c.835A>T	NP_001363408.1:p.Lys279Ter
NM_001376480.1:c.802A>T	NP_001363409.1:p.Lys268Ter
NM_001376481.1:c.790A>T	NP_001363410.1:p.Lys264Ter
NM_001376482.1:c.736A>T	NP_001363411.1:p.Lys246Ter
NM_001376483.1:c.736A>T	NP_001363412.1:p.Lys246Ter
NM_001376484.1:c.655A>T	NP_001363413.1:p.Lys219Ter
NM_015166.3:c.892A>T	NP_055981.1:p.Lys298Ter
NM_139202.2:c.892A>T	NP_631941.1:p.Lys298Ter
NM_139202.3:c.892A>T	NP_631941.1:p.Lys298Ter
NR_164811.1:n.1239A>T
NR_164812.1:n.1023A>T
NR_164813.1:n.1416A>T
ENST00000311597.9:c.892A>T	ENSP00000310375.5:p.Lys298Ter
ENST00000395876.6:c.892A>T	ENSP00000379216.2:p.Lys298Ter
ENST00000483836.1:n.249A>T
XM_011530678.1:c.892A>T	XP_011528980.1:p.Lys298Ter
XM_011530678.2:c.892A>T	XP_011528980.1:p.Lys298Ter
XM_017028671.1:c.892A>T	XP_016884160.1:p.Lys298Ter
XR_001755180.2:n.1397A>T
XR_001755181.2:n.1165A>T
XR_430476.2:n.1287A>T