Canonical Allele Identifier: CA640025973

Gene: MLC1

Linked Data

• dbSNP Id: rs1156404238
• gnomAD v2: 22-50512640-C-A
• MyVariant Identifiers: chr22:g.50512640C>A (hg19) ; chr22:g.50074211C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50074211C>A , CM000684.2:g.50074211C>A	GRCh38
NC_000022.10:g.50512640C>A , CM000684.1:g.50512640C>A	GRCh37
NC_000022.9:g.48854767C>A	NCBI36
NG_009162.1:g.16719G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311597.10:c.714+5G>T MANE Select	ENSP00000310375.6:n.714+5G>T
ENST00000311597.9:c.714+5G>T	ENSP00000310375.5:n.714+5G>T
ENST00000395876.6:c.714+5G>T	ENSP00000379216.2:n.714+5G>T
ENST00000442311.1:c.624+5G>T	ENSP00000401385.1:n.624+5G>T
ENST00000470008.1:n.194+5G>T
NM_015166.3:c.714+5G>T	NP_055981.1:n.714+5G>T
NM_139202.2:c.714+5G>T	NP_631941.1:n.714+5G>T
XM_011530678.1:c.714+5G>T	XP_011528980.1:n.714+5G>T
XR_430476.2:n.1109+5G>T
XM_011530678.2:c.714+5G>T	XP_011528980.1:n.714+5G>T
XM_017028671.1:c.714+5G>T	XP_016884160.1:n.714+5G>T
XR_001755180.2:n.1219+5G>T
XR_001755181.2:n.987+5G>T
NM_001376472.1:c.714+5G>T	NP_001363401.1:n.714+5G>T
NM_001376473.1:c.714+5G>T	NP_001363402.1:n.714+5G>T
NM_001376474.1:c.714+5G>T	NP_001363403.1:n.714+5G>T
NM_001376475.1:c.714+5G>T	NP_001363404.1:n.714+5G>T
NM_001376476.1:c.714+5G>T	NP_001363405.1:n.714+5G>T
NM_001376477.1:c.714+5G>T	NP_001363406.1:n.714+5G>T
NM_001376478.1:c.714+5G>T	NP_001363407.1:n.714+5G>T
NM_001376479.1:c.714+5G>T	NP_001363408.1:n.714+5G>T
NM_001376480.1:c.624+5G>T	NP_001363409.1:n.624+5G>T
NM_001376481.1:c.612+5G>T	NP_001363410.1:n.612+5G>T
NM_001376482.1:c.558+5G>T	NP_001363411.1:n.558+5G>T
NM_001376483.1:c.558+5G>T	NP_001363412.1:n.558+5G>T
NM_001376484.1:c.477+5G>T	NP_001363413.1:n.477+5G>T
NM_015166.4:c.714+5G>T MANE Select	NP_055981.1:n.714+5G>T
NM_139202.3:c.714+5G>T	NP_631941.1:n.714+5G>T
NR_164811.1:n.1061+5G>T
NR_164812.1:n.845+5G>T
NR_164813.1:n.1238+5G>T