Canonical Allele Identifier: CA10303268
Gene: MLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 342103
dbSNP Id: rs199707637

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50064061G>A , CM000684.2:g.50064061G>A GRCh38
NC_000022.10:g.50502490G>A , CM000684.1:g.50502490G>A GRCh37
NC_000022.9:g.48844617G>A NCBI36
NG_009162.1:g.26869C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311597.10:c.1032C>T MANE Select ENSP00000310375.6:p.Asn344=
ENST00000311597.9:c.1032C>T ENSP00000310375.5:p.Asn344=
ENST00000395876.6:c.1032C>T ENSP00000379216.2:p.Asn344=
ENST00000483836.1:n.389C>T
NM_015166.3:c.1032C>T NP_055981.1:p.Asn344=
NM_139202.2:c.1032C>T NP_631941.1:p.Asn344=
XM_011530678.1:c.895-2404C>T XP_011528980.1:n.895-2404C>T
XR_430476.2:n.1427C>T
XM_011530678.2:c.895-2404C>T XP_011528980.1:n.895-2404C>T
XM_017028671.1:c.1032C>T XP_016884160.1:p.Asn344=
XR_001755180.2:n.1537C>T
XR_001755181.2:n.1305C>T
NM_001376472.1:c.1032C>T NP_001363401.1:p.Asn344=
NM_001376473.1:c.1032C>T NP_001363402.1:p.Asn344=
NM_001376474.1:c.1032C>T NP_001363403.1:p.Asn344=
NM_001376475.1:c.1032C>T NP_001363404.1:p.Asn344=
NM_001376476.1:c.1032C>T NP_001363405.1:p.Asn344=
NM_001376477.1:c.1032C>T NP_001363406.1:p.Asn344=
NM_001376478.1:c.1032C>T NP_001363407.1:p.Asn344=
NM_001376479.1:c.975C>T NP_001363408.1:p.Asn325=
NM_001376480.1:c.942C>T NP_001363409.1:p.Asn314=
NM_001376481.1:c.930C>T NP_001363410.1:p.Asn310=
NM_001376482.1:c.876C>T NP_001363411.1:p.Asn292=
NM_001376483.1:c.876C>T NP_001363412.1:p.Asn292=
NM_001376484.1:c.795C>T NP_001363413.1:p.Asn265=
NM_015166.4:c.1032C>T MANE Select NP_055981.1:p.Asn344=
NM_139202.3:c.1032C>T NP_631941.1:p.Asn344=
NR_164811.1:n.1379C>T
NR_164812.1:n.1163C>T
NR_164813.1:n.1556C>T