Canonical Allele Identifier: CA2569920

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284994C>A , CM000665.2:g.122284994C>A	GRCh38
NC_000003.11:g.122003841C>A , CM000665.1:g.122003841C>A	GRCh37
NC_000003.10:g.123486531C>A	NCBI36
NG_009058.1:g.106312C>A
NG_009058.2:g.106327C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000388.4:c.3040C>A MANE Select	NP_000379.3:p.Leu1014Ile
ENST00000639785.2:c.3040C>A MANE Select	ENSP00000491584.2:p.Leu1014Ile
NM_000388.3:c.3040C>A	NP_000379.2:p.Leu1014Ile
NM_001178065.1:c.3070C>A	NP_001171536.1:p.Leu1024Ile
NM_001178065.2:c.3070C>A	NP_001171536.2:p.Leu1024Ile
ENST00000490131.5:c.3040C>A	ENSP00000418685.1:p.Leu1014Ile
ENST00000490131.7:c.2809C>A	ENSP00000418685.2:p.Leu937Ile
ENST00000498619.2:c.3070C>A	ENSP00000420194.1:p.Leu1024Ile
ENST00000498619.4:c.3070C>A	ENSP00000420194.1:p.Leu1024Ile
ENST00000638421.1:c.3040C>A	ENSP00000492190.1:p.Leu1014Ile
XM_005247836.2:c.3040C>A	XP_005247893.1:p.Leu1014Ile
XM_005247837.2:c.2557C>A	XP_005247894.1:p.Leu853Ile
XM_006713789.2:c.3040C>A	XP_006713852.1:p.Leu1014Ile
XM_006713789.3:c.3040C>A	XP_006713852.1:p.Leu1014Ile
XM_011513237.1:c.3040C>A	XP_011511539.1:p.Leu1014Ile
XM_011513238.1:c.3040C>A	XP_011511540.1:p.Leu1014Ile
XM_011513239.1:c.2452C>A	XP_011511541.1:p.Leu818Ile
XM_017007324.1:c.3040C>A	XP_016862813.1:p.Leu1014Ile
XM_017007325.1:c.3040C>A	XP_016862814.1:p.Leu1014Ile