Canonical Allele Identifier: CA412990168

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390333T>G (hg19) ; chrX:g.41531080T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531080T>G , CM000685.2:g.41531080T>G	GRCh38
NC_000023.10:g.41390333T>G , CM000685.1:g.41390333T>G	GRCh37
NC_000023.9:g.41275277T>G	NCBI36
NG_016754.1:g.396955A>C
NG_016754.2:g.396955A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2396A>C	ENSP00000367396.2:p.Tyr799Ser
ENST00000378158.6:c.2393A>C	ENSP00000367400.2:p.Tyr798Ser
ENST00000378163.7:c.2447A>C MANE Select	ENSP00000367405.1:p.Tyr816Ser
ENST00000378166.9:c.2345A>C	ENSP00000367408.5:p.Tyr782Ser
ENST00000378168.8:c.2450A>C	ENSP00000367410.4:p.Tyr817Ser
ENST00000378179.9:c.1067A>C	ENSP00000367421.4:p.Tyr356Ser
ENST00000421587.8:c.2378A>C	ENSP00000400526.4:p.Tyr793Ser
ENST00000442742.7:c.2309A>C	ENSP00000398007.3:p.Tyr770Ser
ENST00000642499.1:n.1226A>C
ENST00000643733.1:c.219A>C
ENST00000644219.1:c.2429A>C	ENSP00000495357.1:p.Tyr810Ser
ENST00000644347.1:c.2360A>C	ENSP00000494183.1:p.Tyr787Ser
ENST00000645566.1:c.2432A>C	ENSP00000494788.1:p.Tyr811Ser
ENST00000645937.2:n.2678A>C
ENST00000645986.2:c.2414A>C	ENSP00000494409.2:p.Tyr805Ser
ENST00000646087.2:c.1769A>C	ENSP00000495510.2:p.Tyr590Ser
ENST00000646120.2:c.2363A>C	ENSP00000495291.2:p.Tyr788Ser
ENST00000675354.1:c.2381A>C	ENSP00000502315.1:p.Tyr794Ser
ENST00000378158.5:c.2396A>C	ENSP00000367400.1:p.Tyr799Ser
ENST00000378163.5:c.2447A>C	ENSP00000367405.1:p.Tyr816Ser
ENST00000378166.8:c.2432A>C	ENSP00000367408.4:p.Tyr811Ser
ENST00000378168.6:c.812A>C	ENSP00000367410.2:p.Tyr271Ser
ENST00000378179.7:c.1223A>C	ENSP00000367421.3:p.Tyr408Ser
ENST00000421587.6:c.2360A>C	ENSP00000400526.2:p.Tyr787Ser
ENST00000442742.6:c.2363A>C	ENSP00000398007.2:p.Tyr788Ser
NM_001126054.2:c.2363A>C	NP_001119526.1:p.Tyr788Ser
NM_001126055.2:c.2360A>C	NP_001119527.1:p.Tyr787Ser
NM_003688.3:c.2432A>C	NP_003679.2:p.Tyr811Ser
XM_005272686.3:c.2429A>C	XP_005272743.1:p.Tyr810Ser
XM_006724566.2:c.2324A>C	XP_006724629.1:p.Tyr775Ser
XM_011543993.1:c.2447A>C	XP_011542295.1:p.Tyr816Ser
XM_011543994.1:c.2411A>C	XP_011542296.1:p.Tyr804Ser
XM_011543995.1:c.2378A>C	XP_011542297.1:p.Tyr793Ser
XM_011543996.1:c.2342A>C	XP_011542298.1:p.Tyr781Ser
XM_011543997.1:c.1874A>C	XP_011542299.1:p.Tyr625Ser
XM_005272686.4:c.2429A>C	XP_005272743.1:p.Tyr810Ser
XM_006724566.3:c.2324A>C	XP_006724629.1:p.Tyr775Ser
XM_011543993.2:c.2447A>C	XP_011542295.1:p.Tyr816Ser
XM_011543994.2:c.2411A>C	XP_011542296.1:p.Tyr804Ser
XM_011543995.2:c.2378A>C	XP_011542297.1:p.Tyr793Ser
XM_011543996.2:c.2342A>C	XP_011542298.1:p.Tyr781Ser
XM_011543997.3:c.1874A>C	XP_011542299.1:p.Tyr625Ser
XM_024452473.1:c.1769A>C	XP_024308241.1:p.Tyr590Ser
NM_001367721.1:c.2447A>C MANE Select	NP_001354650.1:p.Tyr816Ser