Canonical Allele Identifier: CA412990129

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390323T>G (hg19) ; chrX:g.41531070T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531070T>G , CM000685.2:g.41531070T>G	GRCh38
NC_000023.10:g.41390323T>G , CM000685.1:g.41390323T>G	GRCh37
NC_000023.9:g.41275267T>G	NCBI36
NG_016754.1:g.396965A>C
NG_016754.2:g.396965A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2406A>C	ENSP00000367396.2:p.Lys802Asn
ENST00000378158.6:c.2403A>C	ENSP00000367400.2:p.Lys801Asn
ENST00000378163.7:c.2457A>C MANE Select	ENSP00000367405.1:p.Lys819Asn
ENST00000378166.9:c.2355A>C	ENSP00000367408.5:p.Lys785Asn
ENST00000378168.8:c.2460A>C	ENSP00000367410.4:p.Lys820Asn
ENST00000378179.9:c.1077A>C	ENSP00000367421.4:p.Lys359Asn
ENST00000421587.8:c.2388A>C	ENSP00000400526.4:p.Lys796Asn
ENST00000442742.7:c.2319A>C	ENSP00000398007.3:p.Lys773Asn
ENST00000642499.1:n.1236A>C
ENST00000643733.1:c.229A>C
ENST00000644219.1:c.2439A>C	ENSP00000495357.1:p.Lys813Asn
ENST00000644347.1:c.2370A>C	ENSP00000494183.1:p.Lys790Asn
ENST00000645566.1:c.2442A>C	ENSP00000494788.1:p.Lys814Asn
ENST00000645937.2:n.2688A>C
ENST00000645986.2:c.2424A>C	ENSP00000494409.2:p.Lys808Asn
ENST00000646087.2:c.1779A>C	ENSP00000495510.2:p.Lys593Asn
ENST00000646120.2:c.2373A>C	ENSP00000495291.2:p.Lys791Asn
ENST00000675354.1:c.2391A>C	ENSP00000502315.1:p.Lys797Asn
ENST00000378158.5:c.2406A>C	ENSP00000367400.1:p.Lys802Asn
ENST00000378163.5:c.2457A>C	ENSP00000367405.1:p.Lys819Asn
ENST00000378166.8:c.2442A>C	ENSP00000367408.4:p.Lys814Asn
ENST00000378168.6:c.822A>C	ENSP00000367410.2:p.Lys274Asn
ENST00000378179.7:c.1233A>C	ENSP00000367421.3:p.Lys411Asn
ENST00000421587.6:c.2370A>C	ENSP00000400526.2:p.Lys790Asn
ENST00000442742.6:c.2373A>C	ENSP00000398007.2:p.Lys791Asn
NM_001126054.2:c.2373A>C	NP_001119526.1:p.Lys791Asn
NM_001126055.2:c.2370A>C	NP_001119527.1:p.Lys790Asn
NM_003688.3:c.2442A>C	NP_003679.2:p.Lys814Asn
XM_005272686.3:c.2439A>C	XP_005272743.1:p.Lys813Asn
XM_006724566.2:c.2334A>C	XP_006724629.1:p.Lys778Asn
XM_011543993.1:c.2457A>C	XP_011542295.1:p.Lys819Asn
XM_011543994.1:c.2421A>C	XP_011542296.1:p.Lys807Asn
XM_011543995.1:c.2388A>C	XP_011542297.1:p.Lys796Asn
XM_011543996.1:c.2352A>C	XP_011542298.1:p.Lys784Asn
XM_011543997.1:c.1884A>C	XP_011542299.1:p.Lys628Asn
XM_005272686.4:c.2439A>C	XP_005272743.1:p.Lys813Asn
XM_006724566.3:c.2334A>C	XP_006724629.1:p.Lys778Asn
XM_011543993.2:c.2457A>C	XP_011542295.1:p.Lys819Asn
XM_011543994.2:c.2421A>C	XP_011542296.1:p.Lys807Asn
XM_011543995.2:c.2388A>C	XP_011542297.1:p.Lys796Asn
XM_011543996.2:c.2352A>C	XP_011542298.1:p.Lys784Asn
XM_011543997.3:c.1884A>C	XP_011542299.1:p.Lys628Asn
XM_024452473.1:c.1779A>C	XP_024308241.1:p.Lys593Asn
NM_001367721.1:c.2457A>C MANE Select	NP_001354650.1:p.Lys819Asn