Canonical Allele Identifier: CA412990182

Gene: CASK

Linked Data

• gnomAD v4: X-41531083-A-G
• MyVariant Identifiers: chrX:g.41390336A>G (hg19) ; chrX:g.41531083A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531083A>G , CM000685.2:g.41531083A>G	GRCh38
NC_000023.10:g.41390336A>G , CM000685.1:g.41390336A>G	GRCh37
NC_000023.9:g.41275280A>G	NCBI36
NG_016754.1:g.396952T>C
NG_016754.2:g.396952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2393T>C	ENSP00000367396.2:p.Met798Thr
ENST00000378158.6:c.2390T>C	ENSP00000367400.2:p.Met797Thr
ENST00000378163.7:c.2444T>C MANE Select	ENSP00000367405.1:p.Met815Thr
ENST00000378166.9:c.2342T>C	ENSP00000367408.5:p.Met781Thr
ENST00000378168.8:c.2447T>C	ENSP00000367410.4:p.Met816Thr
ENST00000378179.9:c.1064T>C	ENSP00000367421.4:p.Met355Thr
ENST00000421587.8:c.2375T>C	ENSP00000400526.4:p.Met792Thr
ENST00000442742.7:c.2306T>C	ENSP00000398007.3:p.Met769Thr
ENST00000642499.1:n.1223T>C
ENST00000643733.1:c.216T>C
ENST00000644219.1:c.2426T>C	ENSP00000495357.1:p.Met809Thr
ENST00000644347.1:c.2357T>C	ENSP00000494183.1:p.Met786Thr
ENST00000645566.1:c.2429T>C	ENSP00000494788.1:p.Met810Thr
ENST00000645937.2:n.2675T>C
ENST00000645986.2:c.2411T>C	ENSP00000494409.2:p.Met804Thr
ENST00000646087.2:c.1766T>C	ENSP00000495510.2:p.Met589Thr
ENST00000646120.2:c.2360T>C	ENSP00000495291.2:p.Met787Thr
ENST00000675354.1:c.2378T>C	ENSP00000502315.1:p.Met793Thr
ENST00000378158.5:c.2393T>C	ENSP00000367400.1:p.Met798Thr
ENST00000378163.5:c.2444T>C	ENSP00000367405.1:p.Met815Thr
ENST00000378166.8:c.2429T>C	ENSP00000367408.4:p.Met810Thr
ENST00000378168.6:c.809T>C	ENSP00000367410.2:p.Met270Thr
ENST00000378179.7:c.1220T>C	ENSP00000367421.3:p.Met407Thr
ENST00000421587.6:c.2357T>C	ENSP00000400526.2:p.Met786Thr
ENST00000442742.6:c.2360T>C	ENSP00000398007.2:p.Met787Thr
NM_001126054.2:c.2360T>C	NP_001119526.1:p.Met787Thr
NM_001126055.2:c.2357T>C	NP_001119527.1:p.Met786Thr
NM_003688.3:c.2429T>C	NP_003679.2:p.Met810Thr
XM_005272686.3:c.2426T>C	XP_005272743.1:p.Met809Thr
XM_006724566.2:c.2321T>C	XP_006724629.1:p.Met774Thr
XM_011543993.1:c.2444T>C	XP_011542295.1:p.Met815Thr
XM_011543994.1:c.2408T>C	XP_011542296.1:p.Met803Thr
XM_011543995.1:c.2375T>C	XP_011542297.1:p.Met792Thr
XM_011543996.1:c.2339T>C	XP_011542298.1:p.Met780Thr
XM_011543997.1:c.1871T>C	XP_011542299.1:p.Met624Thr
XM_005272686.4:c.2426T>C	XP_005272743.1:p.Met809Thr
XM_006724566.3:c.2321T>C	XP_006724629.1:p.Met774Thr
XM_011543993.2:c.2444T>C	XP_011542295.1:p.Met815Thr
XM_011543994.2:c.2408T>C	XP_011542296.1:p.Met803Thr
XM_011543995.2:c.2375T>C	XP_011542297.1:p.Met792Thr
XM_011543996.2:c.2339T>C	XP_011542298.1:p.Met780Thr
XM_011543997.3:c.1871T>C	XP_011542299.1:p.Met624Thr
XM_024452473.1:c.1766T>C	XP_024308241.1:p.Met589Thr
NM_001367721.1:c.2444T>C MANE Select	NP_001354650.1:p.Met815Thr