Canonical Allele Identifier: CA514998379

Gene: MLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50061604G>A , CM000684.2:g.50061604G>A	GRCh38
NC_000022.10:g.50500033G>A , CM000684.1:g.50500033G>A	GRCh37
NC_000022.9:g.48842160G>A	NCBI36
NG_009162.1:g.29326C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015166.4:c.1113C>T MANE Select	NP_055981.1:p.Val371=
ENST00000311597.10:c.1113C>T MANE Select	ENSP00000310375.6:p.Val371=
NM_001376472.1:c.1113C>T	NP_001363401.1:p.Val371=
NM_001376473.1:c.1113C>T	NP_001363402.1:p.Val371=
NM_001376474.1:c.1113C>T	NP_001363403.1:p.Val371=
NM_001376475.1:c.1113C>T	NP_001363404.1:p.Val371=
NM_001376476.1:c.1113C>T	NP_001363405.1:p.Val371=
NM_001376477.1:c.1113C>T	NP_001363406.1:p.Val371=
NM_001376478.1:c.1113C>T	NP_001363407.1:p.Val371=
NM_001376479.1:c.1056C>T	NP_001363408.1:p.Val352=
NM_001376480.1:c.1023C>T	NP_001363409.1:p.Val341=
NM_001376481.1:c.1011C>T	NP_001363410.1:p.Val337=
NM_001376482.1:c.957C>T	NP_001363411.1:p.Val319=
NM_001376483.1:c.957C>T	NP_001363412.1:p.Val319=
NM_001376484.1:c.876C>T	NP_001363413.1:p.Val292=
NM_015166.3:c.1113C>T	NP_055981.1:p.Val371=
NM_139202.2:c.1113C>T	NP_631941.1:p.Val371=
NM_139202.3:c.1113C>T	NP_631941.1:p.Val371=
NR_164811.1:n.1460C>T
NR_164812.1:n.1244C>T
NR_164813.1:n.1637C>T
ENST00000311597.9:c.1113C>T	ENSP00000310375.5:p.Val371=
ENST00000395876.6:c.1113C>T	ENSP00000379216.2:p.Val371=
ENST00000483836.1:n.470C>T
XM_011530678.1:c.948C>T	XP_011528980.1:p.Val316=
XM_011530678.2:c.948C>T	XP_011528980.1:p.Val316=
XM_017028671.1:c.1113C>T	XP_016884160.1:p.Val371=
XR_001755180.2:n.1618C>T
XR_001755181.2:n.1386C>T
XR_430476.2:n.1508C>T