Canonical Allele Identifier: CA412989936

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390270A>G (hg19) ; chrX:g.41531017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531017A>G , CM000685.2:g.41531017A>G	GRCh38
NC_000023.10:g.41390270A>G , CM000685.1:g.41390270A>G	GRCh37
NC_000023.9:g.41275214A>G	NCBI36
NG_016754.1:g.397018T>C
NG_016754.2:g.397018T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2459T>C	ENSP00000367396.2:p.Val820Ala
ENST00000378158.6:c.2456T>C	ENSP00000367400.2:p.Val819Ala
ENST00000378163.7:c.2510T>C MANE Select	ENSP00000367405.1:p.Val837Ala
ENST00000378166.9:c.2408T>C	ENSP00000367408.5:p.Val803Ala
ENST00000378168.8:c.2513T>C	ENSP00000367410.4:p.Val838Ala
ENST00000378179.9:c.1130T>C	ENSP00000367421.4:p.Val377Ala
ENST00000421587.8:c.2441T>C	ENSP00000400526.4:p.Val814Ala
ENST00000442742.7:c.2372T>C	ENSP00000398007.3:p.Val791Ala
ENST00000642499.1:n.1289T>C
ENST00000643733.1:c.282T>C
ENST00000644219.1:c.2492T>C	ENSP00000495357.1:p.Val831Ala
ENST00000644347.1:c.2423T>C	ENSP00000494183.1:p.Val808Ala
ENST00000645566.1:c.2495T>C	ENSP00000494788.1:p.Val832Ala
ENST00000645937.2:n.2741T>C
ENST00000645986.2:c.2477T>C	ENSP00000494409.2:p.Val826Ala
ENST00000646087.2:c.1832T>C	ENSP00000495510.2:p.Val611Ala
ENST00000646120.2:c.2426T>C	ENSP00000495291.2:p.Val809Ala
ENST00000675354.1:c.2444T>C	ENSP00000502315.1:p.Val815Ala
ENST00000378158.5:c.2459T>C	ENSP00000367400.1:p.Val820Ala
ENST00000378163.5:c.2510T>C	ENSP00000367405.1:p.Val837Ala
ENST00000378166.8:c.2495T>C	ENSP00000367408.4:p.Val832Ala
ENST00000378168.6:c.875T>C	ENSP00000367410.2:p.Val292Ala
ENST00000378179.7:c.1286T>C	ENSP00000367421.3:p.Val429Ala
ENST00000421587.6:c.2423T>C	ENSP00000400526.2:p.Val808Ala
ENST00000442742.6:c.2426T>C	ENSP00000398007.2:p.Val809Ala
NM_001126054.2:c.2426T>C	NP_001119526.1:p.Val809Ala
NM_001126055.2:c.2423T>C	NP_001119527.1:p.Val808Ala
NM_003688.3:c.2495T>C	NP_003679.2:p.Val832Ala
XM_005272686.3:c.2492T>C	XP_005272743.1:p.Val831Ala
XM_006724566.2:c.2387T>C	XP_006724629.1:p.Val796Ala
XM_011543993.1:c.2510T>C	XP_011542295.1:p.Val837Ala
XM_011543994.1:c.2474T>C	XP_011542296.1:p.Val825Ala
XM_011543995.1:c.2441T>C	XP_011542297.1:p.Val814Ala
XM_011543996.1:c.2405T>C	XP_011542298.1:p.Val802Ala
XM_011543997.1:c.1937T>C	XP_011542299.1:p.Val646Ala
XM_005272686.4:c.2492T>C	XP_005272743.1:p.Val831Ala
XM_006724566.3:c.2387T>C	XP_006724629.1:p.Val796Ala
XM_011543993.2:c.2510T>C	XP_011542295.1:p.Val837Ala
XM_011543994.2:c.2474T>C	XP_011542296.1:p.Val825Ala
XM_011543995.2:c.2441T>C	XP_011542297.1:p.Val814Ala
XM_011543996.2:c.2405T>C	XP_011542298.1:p.Val802Ala
XM_011543997.3:c.1937T>C	XP_011542299.1:p.Val646Ala
XM_024452473.1:c.1832T>C	XP_024308241.1:p.Val611Ala
NM_001367721.1:c.2510T>C MANE Select	NP_001354650.1:p.Val837Ala