Canonical Allele Identifier: CA10645733

Gene: MLC1

Linked Data

• ClinVar Variation Id: 342078
• ClinVar RCV Id: RCV000301288
• dbSNP Id: rs41283489
• gnomAD v2: 22-50498248-C-A
• gnomAD v3: 22-50059819-C-A
• gnomAD v4: 22-50059819-C-A
• MyVariant Identifiers: chr22:g.50498248C>A (hg19) ; chr22:g.50059819C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50059819C>A , CM000684.2:g.50059819C>A	GRCh38
NC_000022.10:g.50498248C>A , CM000684.1:g.50498248C>A	GRCh37
NC_000022.9:g.48840375C>A	NCBI36
NG_009162.1:g.31111G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.*1764G>T MANE Select	ENSP00000310375.6:n.*1764G>T
ENST00000311597.9:c.*1764G>T	ENSP00000310375.5:n.*1764G>T
ENST00000395876.6:c.*1764G>T	ENSP00000379216.2:n.*1764G>T
NM_015166.3:c.*1764G>T	NP_055981.1:n.*1764G>T
NM_139202.2:c.*1764G>T	NP_631941.1:n.*1764G>T
XM_011530678.1:c.*1764G>T	XP_011528980.1:n.*1764G>T
XR_430476.2:n.3242G>T
XM_011530678.2:c.*1764G>T	XP_011528980.1:n.*1764G>T
XM_017028671.1:c.*1764G>T	XP_016884160.1:n.*1764G>T
XR_001755180.2:n.2103G>T
XR_001755181.2:n.1871G>T
NM_001376472.1:c.*1764G>T	NP_001363401.1:n.*1764G>T
NM_001376473.1:c.*1764G>T	NP_001363402.1:n.*1764G>T
NM_001376474.1:c.*1764G>T	NP_001363403.1:n.*1764G>T
NM_001376475.1:c.*1764G>T	NP_001363404.1:n.*1764G>T
NM_001376476.1:c.*1764G>T	NP_001363405.1:n.*1764G>T
NM_001376477.1:c.*379G>T	NP_001363406.1:n.*379G>T
NM_001376478.1:c.*379G>T	NP_001363407.1:n.*379G>T
NM_001376479.1:c.*1764G>T	NP_001363408.1:n.*1764G>T
NM_001376480.1:c.*1764G>T	NP_001363409.1:n.*1764G>T
NM_001376481.1:c.*1764G>T	NP_001363410.1:n.*1764G>T
NM_001376482.1:c.*1764G>T	NP_001363411.1:n.*1764G>T
NM_001376483.1:c.*1764G>T	NP_001363412.1:n.*1764G>T
NM_001376484.1:c.*1764G>T	NP_001363413.1:n.*1764G>T
NM_015166.4:c.*1764G>T MANE Select	NP_055981.1:n.*1764G>T
NM_139202.3:c.*1764G>T	NP_631941.1:n.*1764G>T
NR_164811.1:n.1945G>T
NR_164812.1:n.1777G>T
NR_164813.1:n.2122G>T