Canonical Allele Identifier: CA342995925

Gene: CD1E

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158355372A>G , CM000663.2:g.158355372A>G	GRCh38
NC_000001.10:g.158325162A>G , CM000663.1:g.158325162A>G	GRCh37
NC_000001.9:g.156591786A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_030893.4:c.428A>G MANE Select	NP_112155.2:p.Gln143Arg
ENST00000368167.8:c.428A>G MANE Select	ENSP00000357149.3:p.Gln143Arg
NM_001042583.2:c.428A>G	NP_001036048.1:p.Gln143Arg
NM_001042583.3:c.428A>G	NP_001036048.1:p.Gln143Arg
NM_001042584.2:c.428A>G	NP_001036049.1:p.Gln143Arg
NM_001042584.3:c.428A>G	NP_001036049.1:p.Gln143Arg
NM_001042585.2:c.428A>G	NP_001036050.1:p.Gln143Arg
NM_001042585.3:c.428A>G	NP_001036050.1:p.Gln143Arg
NM_001042586.2:c.59-455A>G	NP_001036051.1:n.59-455A>G
NM_001042586.3:c.59-455A>G	NP_001036051.1:n.59-455A>G
NM_001042587.2:c.59-455A>G	NP_001036052.1:n.59-455A>G
NM_001042587.3:c.59-455A>G	NP_001036052.1:n.59-455A>G
NM_001185107.1:c.356-455A>G	NP_001172036.1:n.356-455A>G
NM_001185107.2:c.356-455A>G	NP_001172036.1:n.356-455A>G
NM_001185108.1:c.356-455A>G	NP_001172037.1:n.356-455A>G
NM_001185108.2:c.356-455A>G	NP_001172037.1:n.356-455A>G
NM_001185110.1:c.59-455A>G	NP_001172039.1:n.59-455A>G
NM_001185110.2:c.59-455A>G	NP_001172039.1:n.59-455A>G
NM_001185112.1:c.59-455A>G	NP_001172041.1:n.59-455A>G
NM_001185112.2:c.59-455A>G	NP_001172041.1:n.59-455A>G
NM_001185113.1:c.59-455A>G	NP_001172042.1:n.59-455A>G
NM_001185113.2:c.59-455A>G	NP_001172042.1:n.59-455A>G
NM_001185114.1:c.131A>G	NP_001172043.1:p.Gln44Arg
NM_001185114.2:c.131A>G	NP_001172043.1:p.Gln44Arg
NM_001185115.1:c.356-455A>G	NP_001172044.1:n.356-455A>G
NM_001185115.2:c.356-455A>G	NP_001172044.1:n.356-455A>G
NM_030893.3:c.428A>G	NP_112155.2:p.Gln143Arg
ENST00000368154.5:c.59-455A>G	ENSP00000357136.1:n.59-455A>G
ENST00000368155.7:c.356-455A>G	ENSP00000357137.3:n.356-455A>G
ENST00000368156.5:c.356-455A>G	ENSP00000357138.1:n.356-455A>G
ENST00000368157.5:c.59-455A>G	ENSP00000357139.1:n.59-455A>G
ENST00000368160.7:c.428A>G	ENSP00000357142.3:p.Gln143Arg
ENST00000368161.7:c.428A>G	ENSP00000357143.3:p.Gln143Arg
ENST00000368163.7:c.428A>G	ENSP00000357145.3:p.Gln143Arg
ENST00000368164.7:c.59-455A>G	ENSP00000357146.3:n.59-455A>G
ENST00000368165.7:c.356-455A>G	ENSP00000357147.3:n.356-455A>G
ENST00000368166.7:c.59-455A>G	ENSP00000357148.3:n.59-455A>G
ENST00000368167.7:c.428A>G	ENSP00000357149.3:p.Gln143Arg
ENST00000444681.6:c.131A>G	ENSP00000402906.2:p.Gln44Arg
ENST00000452291.6:c.59-455A>G	ENSP00000416228.2:n.59-455A>G
XM_011510133.1:c.428A>G	XP_011508435.1:p.Gln143Arg
XM_011510133.3:c.428A>G	XP_011508435.1:p.Gln143Arg
XM_011510134.1:c.428A>G	XP_011508436.1:p.Gln143Arg
XM_011510134.3:c.428A>G	XP_011508436.1:p.Gln143Arg
XM_011510135.1:c.59-156A>G	XP_011508437.1:n.59-156A>G