Canonical Allele Identifier: CA412990185

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390337T>A (hg19) ; chrX:g.41531084T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531084T>A , CM000685.2:g.41531084T>A	GRCh38
NC_000023.10:g.41390337T>A , CM000685.1:g.41390337T>A	GRCh37
NC_000023.9:g.41275281T>A	NCBI36
NG_016754.1:g.396951A>T
NG_016754.2:g.396951A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2392A>T	ENSP00000367396.2:p.Met798Leu
ENST00000378158.6:c.2389A>T	ENSP00000367400.2:p.Met797Leu
ENST00000378163.7:c.2443A>T MANE Select	ENSP00000367405.1:p.Met815Leu
ENST00000378166.9:c.2341A>T	ENSP00000367408.5:p.Met781Leu
ENST00000378168.8:c.2446A>T	ENSP00000367410.4:p.Met816Leu
ENST00000378179.9:c.1063A>T	ENSP00000367421.4:p.Met355Leu
ENST00000421587.8:c.2374A>T	ENSP00000400526.4:p.Met792Leu
ENST00000442742.7:c.2305A>T	ENSP00000398007.3:p.Met769Leu
ENST00000642499.1:n.1222A>T
ENST00000643733.1:c.215A>T
ENST00000644219.1:c.2425A>T	ENSP00000495357.1:p.Met809Leu
ENST00000644347.1:c.2356A>T	ENSP00000494183.1:p.Met786Leu
ENST00000645566.1:c.2428A>T	ENSP00000494788.1:p.Met810Leu
ENST00000645937.2:n.2674A>T
ENST00000645986.2:c.2410A>T	ENSP00000494409.2:p.Met804Leu
ENST00000646087.2:c.1765A>T	ENSP00000495510.2:p.Met589Leu
ENST00000646120.2:c.2359A>T	ENSP00000495291.2:p.Met787Leu
ENST00000675354.1:c.2377A>T	ENSP00000502315.1:p.Met793Leu
ENST00000378158.5:c.2392A>T	ENSP00000367400.1:p.Met798Leu
ENST00000378163.5:c.2443A>T	ENSP00000367405.1:p.Met815Leu
ENST00000378166.8:c.2428A>T	ENSP00000367408.4:p.Met810Leu
ENST00000378168.6:c.808A>T	ENSP00000367410.2:p.Met270Leu
ENST00000378179.7:c.1219A>T	ENSP00000367421.3:p.Met407Leu
ENST00000421587.6:c.2356A>T	ENSP00000400526.2:p.Met786Leu
ENST00000442742.6:c.2359A>T	ENSP00000398007.2:p.Met787Leu
NM_001126054.2:c.2359A>T	NP_001119526.1:p.Met787Leu
NM_001126055.2:c.2356A>T	NP_001119527.1:p.Met786Leu
NM_003688.3:c.2428A>T	NP_003679.2:p.Met810Leu
XM_005272686.3:c.2425A>T	XP_005272743.1:p.Met809Leu
XM_006724566.2:c.2320A>T	XP_006724629.1:p.Met774Leu
XM_011543993.1:c.2443A>T	XP_011542295.1:p.Met815Leu
XM_011543994.1:c.2407A>T	XP_011542296.1:p.Met803Leu
XM_011543995.1:c.2374A>T	XP_011542297.1:p.Met792Leu
XM_011543996.1:c.2338A>T	XP_011542298.1:p.Met780Leu
XM_011543997.1:c.1870A>T	XP_011542299.1:p.Met624Leu
XM_005272686.4:c.2425A>T	XP_005272743.1:p.Met809Leu
XM_006724566.3:c.2320A>T	XP_006724629.1:p.Met774Leu
XM_011543993.2:c.2443A>T	XP_011542295.1:p.Met815Leu
XM_011543994.2:c.2407A>T	XP_011542296.1:p.Met803Leu
XM_011543995.2:c.2374A>T	XP_011542297.1:p.Met792Leu
XM_011543996.2:c.2338A>T	XP_011542298.1:p.Met780Leu
XM_011543997.3:c.1870A>T	XP_011542299.1:p.Met624Leu
XM_024452473.1:c.1765A>T	XP_024308241.1:p.Met589Leu
NM_001367721.1:c.2443A>T MANE Select	NP_001354650.1:p.Met815Leu