Canonical Allele Identifier: CA515000017

Gene: MLC1

Linked Data

• ClinVar Variation Id: 1658788
• ClinVar RCV Id: RCV002174339
• dbSNP Id: rs2061928660
• MyVariant Identifiers: chr22:g.50512738G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50074309G>A , CM000684.2:g.50074309G>A	GRCh38
NC_000022.10:g.50512738G>A , CM000684.1:g.50512738G>A	GRCh37
NC_000022.9:g.48854865G>A	NCBI36
NG_009162.1:g.16621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.621C>T MANE Select	ENSP00000310375.6:p.Ile207=
ENST00000311597.9:c.621C>T	ENSP00000310375.5:p.Ile207=
ENST00000395876.6:c.621C>T	ENSP00000379216.2:p.Ile207=
ENST00000442311.1:c.531C>T	ENSP00000401385.1:p.Ile177=
ENST00000470008.1:n.101C>T
NM_015166.3:c.621C>T	NP_055981.1:p.Ile207=
NM_139202.2:c.621C>T	NP_631941.1:p.Ile207=
XM_011530678.1:c.621C>T	XP_011528980.1:p.Ile207=
XR_430476.2:n.1016C>T
XM_011530678.2:c.621C>T	XP_011528980.1:p.Ile207=
XM_017028671.1:c.621C>T	XP_016884160.1:p.Ile207=
XR_001755180.2:n.1126C>T
XR_001755181.2:n.894C>T
NM_001376472.1:c.621C>T	NP_001363401.1:p.Ile207=
NM_001376473.1:c.621C>T	NP_001363402.1:p.Ile207=
NM_001376474.1:c.621C>T	NP_001363403.1:p.Ile207=
NM_001376475.1:c.621C>T	NP_001363404.1:p.Ile207=
NM_001376476.1:c.621C>T	NP_001363405.1:p.Ile207=
NM_001376477.1:c.621C>T	NP_001363406.1:p.Ile207=
NM_001376478.1:c.621C>T	NP_001363407.1:p.Ile207=
NM_001376479.1:c.621C>T	NP_001363408.1:p.Ile207=
NM_001376480.1:c.531C>T	NP_001363409.1:p.Ile177=
NM_001376481.1:c.519C>T	NP_001363410.1:p.Ile173=
NM_001376482.1:c.465C>T	NP_001363411.1:p.Ile155=
NM_001376483.1:c.465C>T	NP_001363412.1:p.Ile155=
NM_001376484.1:c.384C>T	NP_001363413.1:p.Ile128=
NM_015166.4:c.621C>T MANE Select	NP_055981.1:p.Ile207=
NM_139202.3:c.621C>T	NP_631941.1:p.Ile207=
NR_164811.1:n.968C>T
NR_164812.1:n.752C>T
NR_164813.1:n.1145C>T