Canonical Allele Identifier: CA343269580

Gene: COPA NHLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160332518C>A , CM000663.2:g.160332518C>A	GRCh38
NC_000001.10:g.160302308C>A , CM000663.1:g.160302308C>A	GRCh37
NC_000001.9:g.158568932C>A	NCBI36
NG_050927.1:g.16047G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696203.1:n.2910G>T (COPA)
ENST00000696204.1:n.3117G>T (COPA)
ENST00000696207.1:n.423G>T (COPA)
ENST00000696208.1:n.529G>T (COPA)
ENST00000696209.1:n.822G>T (COPA)
ENST00000696210.1:n.822G>T (COPA)
ENST00000696211.1:n.822G>T (COPA)
ENST00000696212.1:n.3110G>T (COPA)
ENST00000696213.1:n.1553G>T (COPA)
ENST00000696214.1:n.3136G>T (COPA)
ENST00000696215.1:n.529G>T (COPA)
ENST00000241704.8:c.426G>T (COPA) MANE Select	ENSP00000241704.7:p.Gln142His
ENST00000647683.1:c.426G>T (COPA)	ENSP00000497495.1:p.Gln142His
ENST00000647693.1:n.1510G>T (COPA)
ENST00000647799.1:c.349G>T (COPA)	ENSP00000497970.1:p.Val117Phe
ENST00000647899.1:c.29G>T (COPA)
ENST00000648501.1:c.35G>T (COPA)
ENST00000648805.1:c.426G>T (COPA)	ENSP00000497433.1:p.Gln142His
ENST00000649231.1:c.426G>T (COPA)	ENSP00000498061.1:p.Gln142His
ENST00000649787.1:c.426G>T (COPA)	ENSP00000497231.1:p.Gln142His
ENST00000649963.1:c.*115G>T (COPA)	ENSP00000498129.1:n.*115G>T
ENST00000650154.1:c.268G>T (COPA)	ENSP00000497094.1:p.Val90Phe
ENST00000241704.7:c.426G>T (COPA)	ENSP00000241704.7:p.Gln142His
ENST00000368069.7:c.426G>T (COPA)	ENSP00000357048.3:p.Gln142His
NM_001098398.1:c.426G>T (COPA)	NP_001091868.1:p.Gln142His
NM_004371.3:c.426G>T (COPA)	NP_004362.2:p.Gln142His
XM_011509584.1:c.-175-38039C>A (NHLH1)	XP_011507886.1:n.-175-38039C>A
NM_001098398.2:c.426G>T (COPA)	NP_001091868.1:p.Gln142His
NM_004371.4:c.426G>T (COPA) MANE Select	NP_004362.2:p.Gln142His