Canonical Allele Identifier: CA412109255

Gene: MLC1

Linked Data

• MyVariant Identifiers: chr22:g.50512698C>T (hg19) ; chr22:g.50074269C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50074269C>T , CM000684.2:g.50074269C>T	GRCh38
NC_000022.10:g.50512698C>T , CM000684.1:g.50512698C>T	GRCh37
NC_000022.9:g.48854825C>T	NCBI36
NG_009162.1:g.16661G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.661G>A MANE Select	ENSP00000310375.6:p.Asp221Asn
ENST00000311597.9:c.661G>A	ENSP00000310375.5:p.Asp221Asn
ENST00000395876.6:c.661G>A	ENSP00000379216.2:p.Asp221Asn
ENST00000442311.1:c.571G>A	ENSP00000401385.1:p.Asp191Asn
ENST00000470008.1:n.141G>A
NM_015166.3:c.661G>A	NP_055981.1:p.Asp221Asn
NM_139202.2:c.661G>A	NP_631941.1:p.Asp221Asn
XM_011530678.1:c.661G>A	XP_011528980.1:p.Asp221Asn
XR_430476.2:n.1056G>A
XM_011530678.2:c.661G>A	XP_011528980.1:p.Asp221Asn
XM_017028671.1:c.661G>A	XP_016884160.1:p.Asp221Asn
XR_001755180.2:n.1166G>A
XR_001755181.2:n.934G>A
NM_001376472.1:c.661G>A	NP_001363401.1:p.Asp221Asn
NM_001376473.1:c.661G>A	NP_001363402.1:p.Asp221Asn
NM_001376474.1:c.661G>A	NP_001363403.1:p.Asp221Asn
NM_001376475.1:c.661G>A	NP_001363404.1:p.Asp221Asn
NM_001376476.1:c.661G>A	NP_001363405.1:p.Asp221Asn
NM_001376477.1:c.661G>A	NP_001363406.1:p.Asp221Asn
NM_001376478.1:c.661G>A	NP_001363407.1:p.Asp221Asn
NM_001376479.1:c.661G>A	NP_001363408.1:p.Asp221Asn
NM_001376480.1:c.571G>A	NP_001363409.1:p.Asp191Asn
NM_001376481.1:c.559G>A	NP_001363410.1:p.Asp187Asn
NM_001376482.1:c.505G>A	NP_001363411.1:p.Asp169Asn
NM_001376483.1:c.505G>A	NP_001363412.1:p.Asp169Asn
NM_001376484.1:c.424G>A	NP_001363413.1:p.Asp142Asn
NM_015166.4:c.661G>A MANE Select	NP_055981.1:p.Asp221Asn
NM_139202.3:c.661G>A	NP_631941.1:p.Asp221Asn
NR_164811.1:n.1008G>A
NR_164812.1:n.792G>A
NR_164813.1:n.1185G>A