Canonical Allele Identifier: CA412109200

Gene: MLC1

Linked Data

• MyVariant Identifiers: chr22:g.50512682G>T (hg19) ; chr22:g.50074253G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50074253G>T , CM000684.2:g.50074253G>T	GRCh38
NC_000022.10:g.50512682G>T , CM000684.1:g.50512682G>T	GRCh37
NC_000022.9:g.48854809G>T	NCBI36
NG_009162.1:g.16677C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.677C>A MANE Select	ENSP00000310375.6:p.Pro226Gln
ENST00000311597.9:c.677C>A	ENSP00000310375.5:p.Pro226Gln
ENST00000395876.6:c.677C>A	ENSP00000379216.2:p.Pro226Gln
ENST00000442311.1:c.587C>A	ENSP00000401385.1:p.Pro196Gln
ENST00000470008.1:n.157C>A
NM_015166.3:c.677C>A	NP_055981.1:p.Pro226Gln
NM_139202.2:c.677C>A	NP_631941.1:p.Pro226Gln
XM_011530678.1:c.677C>A	XP_011528980.1:p.Pro226Gln
XR_430476.2:n.1072C>A
XM_011530678.2:c.677C>A	XP_011528980.1:p.Pro226Gln
XM_017028671.1:c.677C>A	XP_016884160.1:p.Pro226Gln
XR_001755180.2:n.1182C>A
XR_001755181.2:n.950C>A
NM_001376472.1:c.677C>A	NP_001363401.1:p.Pro226Gln
NM_001376473.1:c.677C>A	NP_001363402.1:p.Pro226Gln
NM_001376474.1:c.677C>A	NP_001363403.1:p.Pro226Gln
NM_001376475.1:c.677C>A	NP_001363404.1:p.Pro226Gln
NM_001376476.1:c.677C>A	NP_001363405.1:p.Pro226Gln
NM_001376477.1:c.677C>A	NP_001363406.1:p.Pro226Gln
NM_001376478.1:c.677C>A	NP_001363407.1:p.Pro226Gln
NM_001376479.1:c.677C>A	NP_001363408.1:p.Pro226Gln
NM_001376480.1:c.587C>A	NP_001363409.1:p.Pro196Gln
NM_001376481.1:c.575C>A	NP_001363410.1:p.Pro192Gln
NM_001376482.1:c.521C>A	NP_001363411.1:p.Pro174Gln
NM_001376483.1:c.521C>A	NP_001363412.1:p.Pro174Gln
NM_001376484.1:c.440C>A	NP_001363413.1:p.Pro147Gln
NM_015166.4:c.677C>A MANE Select	NP_055981.1:p.Pro226Gln
NM_139202.3:c.677C>A	NP_631941.1:p.Pro226Gln
NR_164811.1:n.1024C>A
NR_164812.1:n.808C>A
NR_164813.1:n.1201C>A