Canonical Allele Identifier: CA386890860

Gene: MED13L

Linked Data

• ClinVar Variation Id: 488544
• ClinVar RCV Id: RCV000578378
• dbSNP Id: rs1555246143
• COSMIC: COSM3710553
• MyVariant Identifiers: chr12:g.116435005G>A (hg19) ; chr12:g.115997200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997200G>A , CM000674.2:g.115997200G>A	GRCh38
NC_000012.11:g.116435005G>A , CM000674.1:g.116435005G>A	GRCh37
NC_000012.10:g.114919388G>A	NCBI36
NG_023366.1:g.284987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2600C>T MANE Select	ENSP00000281928.3:p.Thr867Ile
ENST00000548743.2:c.2570C>T	ENSP00000448553.2:p.Thr857Ile
ENST00000549786.2:c.2028C>T
ENST00000647927.1:n.2973C>T
ENST00000648173.1:n.1395C>T
ENST00000648379.1:n.968C>T
ENST00000648737.1:n.2364C>T
ENST00000648916.1:n.611C>T
ENST00000649607.1:c.784C>T
ENST00000650226.1:c.2600C>T	ENSP00000496981.1:p.Thr867Ile
ENST00000281928.7:c.2600C>T	ENSP00000281928.3:p.Thr867Ile
NM_015335.4:c.2600C>T	NP_056150.1:p.Thr867Ile
XM_011538080.1:c.2600C>T	XP_011536382.1:p.Thr867Ile
XM_011538081.1:c.2597C>T	XP_011536383.1:p.Thr866Ile
XM_011538082.1:c.2570C>T	XP_011536384.1:p.Thr857Ile
XM_011538080.2:c.2600C>T	XP_011536382.1:p.Thr867Ile
XM_011538081.2:c.2597C>T	XP_011536383.1:p.Thr866Ile
XM_011538082.2:c.2570C>T	XP_011536384.1:p.Thr857Ile
XM_017019090.1:c.2597C>T	XP_016874579.1:p.Thr866Ile
NM_015335.5:c.2600C>T MANE Select	NP_056150.1:p.Thr867Ile