Canonical Allele Identifier: CA367287991

Gene: CDK13

Linked Data

• gnomAD v4: 7-39999378-A-G
• MyVariant Identifiers: chr7:g.40038977A>G (hg19) ; chr7:g.39999378A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.39999378A>G , CM000669.2:g.39999378A>G	GRCh38
NC_000007.13:g.40038977A>G , CM000669.1:g.40038977A>G	GRCh37
NC_000007.12:g.40005502A>G	NCBI36
NG_052965.1:g.54019A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181839.10:c.2060A>G MANE Select	ENSP00000181839.4:p.Tyr687Cys
ENST00000340829.10:c.2060A>G	ENSP00000340557.5:p.Tyr687Cys
ENST00000484589.2:c.612A>G
ENST00000642213.1:n.542A>G
ENST00000642660.1:n.940A>G
ENST00000643859.1:c.951A>G
ENST00000643915.1:c.374A>G	ENSP00000496187.1:p.Tyr125Cys
ENST00000646039.1:c.1400A>G	ENSP00000494168.1:p.Tyr467Cys
ENST00000646437.1:c.694A>G
ENST00000647453.1:n.1129A>G
ENST00000647518.1:n.3897A>G
ENST00000181839.8:c.2060A>G	ENSP00000181839.4:p.Tyr687Cys
ENST00000340829.9:c.2060A>G	ENSP00000340557.5:p.Tyr687Cys
ENST00000484589.1:n.612A>G
ENST00000611390.1:c.218A>G	ENSP00000484610.1:p.Tyr73Cys
ENST00000613626.4:c.218A>G	ENSP00000480835.1:p.Tyr73Cys
NM_003718.4:c.2060A>G	NP_003709.3:p.Tyr687Cys
NM_031267.3:c.2060A>G	NP_112557.2:p.Tyr687Cys
XM_011515597.1:c.2060A>G	XP_011513899.1:p.Tyr687Cys
XM_011515598.1:c.2060A>G	XP_011513900.1:p.Tyr687Cys
XM_011515597.3:c.2060A>G	XP_011513899.1:p.Tyr687Cys
XM_017012750.2:c.2060A>G	XP_016868239.1:p.Tyr687Cys
XM_017012751.2:c.2060A>G	XP_016868240.1:p.Tyr687Cys
NM_003718.5:c.2060A>G MANE Select	NP_003709.3:p.Tyr687Cys