Canonical Allele Identifier: CA514999916

Gene: MLC1

Linked Data

• dbSNP Id: rs756589485
• MyVariant Identifiers: chr22:g.50512666C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50074237C>A , CM000684.2:g.50074237C>A	GRCh38
NC_000022.10:g.50512666C>A , CM000684.1:g.50512666C>A	GRCh37
NC_000022.9:g.48854793C>A	NCBI36
NG_009162.1:g.16693G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.693G>T MANE Select	ENSP00000310375.6:p.Thr231=
ENST00000311597.9:c.693G>T	ENSP00000310375.5:p.Thr231=
ENST00000395876.6:c.693G>T	ENSP00000379216.2:p.Thr231=
ENST00000442311.1:c.603G>T	ENSP00000401385.1:p.Thr201=
ENST00000470008.1:n.173G>T
NM_015166.3:c.693G>T	NP_055981.1:p.Thr231=
NM_139202.2:c.693G>T	NP_631941.1:p.Thr231=
XM_011530678.1:c.693G>T	XP_011528980.1:p.Thr231=
XR_430476.2:n.1088G>T
XM_011530678.2:c.693G>T	XP_011528980.1:p.Thr231=
XM_017028671.1:c.693G>T	XP_016884160.1:p.Thr231=
XR_001755180.2:n.1198G>T
XR_001755181.2:n.966G>T
NM_001376472.1:c.693G>T	NP_001363401.1:p.Thr231=
NM_001376473.1:c.693G>T	NP_001363402.1:p.Thr231=
NM_001376474.1:c.693G>T	NP_001363403.1:p.Thr231=
NM_001376475.1:c.693G>T	NP_001363404.1:p.Thr231=
NM_001376476.1:c.693G>T	NP_001363405.1:p.Thr231=
NM_001376477.1:c.693G>T	NP_001363406.1:p.Thr231=
NM_001376478.1:c.693G>T	NP_001363407.1:p.Thr231=
NM_001376479.1:c.693G>T	NP_001363408.1:p.Thr231=
NM_001376480.1:c.603G>T	NP_001363409.1:p.Thr201=
NM_001376481.1:c.591G>T	NP_001363410.1:p.Thr197=
NM_001376482.1:c.537G>T	NP_001363411.1:p.Thr179=
NM_001376483.1:c.537G>T	NP_001363412.1:p.Thr179=
NM_001376484.1:c.456G>T	NP_001363413.1:p.Thr152=
NM_015166.4:c.693G>T MANE Select	NP_055981.1:p.Thr231=
NM_139202.3:c.693G>T	NP_631941.1:p.Thr231=
NR_164811.1:n.1040G>T
NR_164812.1:n.824G>T
NR_164813.1:n.1217G>T