Canonical Allele Identifier: CA412109151

Gene: MLC1

Linked Data

• MyVariant Identifiers: chr22:g.50512665A>T (hg19) ; chr22:g.50074236A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50074236A>T , CM000684.2:g.50074236A>T	GRCh38
NC_000022.10:g.50512665A>T , CM000684.1:g.50512665A>T	GRCh37
NC_000022.9:g.48854792A>T	NCBI36
NG_009162.1:g.16694T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.694T>A MANE Select	ENSP00000310375.6:p.Phe232Ile
ENST00000311597.9:c.694T>A	ENSP00000310375.5:p.Phe232Ile
ENST00000395876.6:c.694T>A	ENSP00000379216.2:p.Phe232Ile
ENST00000442311.1:c.604T>A	ENSP00000401385.1:p.Phe202Ile
ENST00000470008.1:n.174T>A
NM_015166.3:c.694T>A	NP_055981.1:p.Phe232Ile
NM_139202.2:c.694T>A	NP_631941.1:p.Phe232Ile
XM_011530678.1:c.694T>A	XP_011528980.1:p.Phe232Ile
XR_430476.2:n.1089T>A
XM_011530678.2:c.694T>A	XP_011528980.1:p.Phe232Ile
XM_017028671.1:c.694T>A	XP_016884160.1:p.Phe232Ile
XR_001755180.2:n.1199T>A
XR_001755181.2:n.967T>A
NM_001376472.1:c.694T>A	NP_001363401.1:p.Phe232Ile
NM_001376473.1:c.694T>A	NP_001363402.1:p.Phe232Ile
NM_001376474.1:c.694T>A	NP_001363403.1:p.Phe232Ile
NM_001376475.1:c.694T>A	NP_001363404.1:p.Phe232Ile
NM_001376476.1:c.694T>A	NP_001363405.1:p.Phe232Ile
NM_001376477.1:c.694T>A	NP_001363406.1:p.Phe232Ile
NM_001376478.1:c.694T>A	NP_001363407.1:p.Phe232Ile
NM_001376479.1:c.694T>A	NP_001363408.1:p.Phe232Ile
NM_001376480.1:c.604T>A	NP_001363409.1:p.Phe202Ile
NM_001376481.1:c.592T>A	NP_001363410.1:p.Phe198Ile
NM_001376482.1:c.538T>A	NP_001363411.1:p.Phe180Ile
NM_001376483.1:c.538T>A	NP_001363412.1:p.Phe180Ile
NM_001376484.1:c.457T>A	NP_001363413.1:p.Phe153Ile
NM_015166.4:c.694T>A MANE Select	NP_055981.1:p.Phe232Ile
NM_139202.3:c.694T>A	NP_631941.1:p.Phe232Ile
NR_164811.1:n.1041T>A
NR_164812.1:n.825T>A
NR_164813.1:n.1218T>A