Canonical Allele Identifier: CA386881438

Gene: MED13L

Linked Data

• COSMIC: COSM5840247
• MyVariant Identifiers: chr12:g.116420380G>A (hg19) ; chr12:g.115982575G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982575G>A , CM000674.2:g.115982575G>A	GRCh38
NC_000012.11:g.116420380G>A , CM000674.1:g.116420380G>A	GRCh37
NC_000012.10:g.114904763G>A	NCBI36
NG_023366.1:g.299612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4984C>T MANE Select	ENSP00000281928.3:p.Pro1662Ser
ENST00000549786.2:c.4412C>T
ENST00000648379.1:n.3352C>T
ENST00000648737.1:n.4748C>T
ENST00000648825.1:n.1724C>T
ENST00000648916.1:n.2995C>T
ENST00000649146.1:n.2227C>T
ENST00000649607.1:c.3168C>T
ENST00000649775.1:c.1473C>T
ENST00000650226.1:c.4984C>T	ENSP00000496981.1:p.Pro1662Ser
ENST00000281928.7:c.4984C>T	ENSP00000281928.3:p.Pro1662Ser
ENST00000549786.1:c.348C>T
ENST00000552340.1:c.16C>T	ENSP00000449876.1:p.Pro6Ser
NM_015335.4:c.4984C>T	NP_056150.1:p.Pro1662Ser
XM_011538080.1:c.4984C>T	XP_011536382.1:p.Pro1662Ser
XM_011538081.1:c.4981C>T	XP_011536383.1:p.Pro1661Ser
XM_011538082.1:c.4954C>T	XP_011536384.1:p.Pro1652Ser
XM_011538080.2:c.4984C>T	XP_011536382.1:p.Pro1662Ser
XM_011538081.2:c.4981C>T	XP_011536383.1:p.Pro1661Ser
XM_011538082.2:c.4954C>T	XP_011536384.1:p.Pro1652Ser
XM_017019090.1:c.4981C>T	XP_016874579.1:p.Pro1661Ser
NM_015335.5:c.4984C>T MANE Select	NP_056150.1:p.Pro1662Ser