Canonical Allele Identifier: CA1397871757

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284134T= , CM000665.2:g.122284134T=	GRCh38
NC_000003.11:g.122002981T= , CM000665.1:g.122002981T=	GRCh37
NC_000003.10:g.123485671T=	NCBI36
NG_009058.1:g.105452T=
NG_009058.2:g.105467T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000388.4:c.2180T= MANE Select	NP_000379.3:p.Leu727=
ENST00000639785.2:c.2180T= MANE Select	ENSP00000491584.2:p.Leu727=
NM_000388.3:c.2180T=	NP_000379.2:p.Leu727=
NM_001178065.1:c.2210T=	NP_001171536.1:p.Leu737=
NM_001178065.2:c.2210T=	NP_001171536.2:p.Leu737=
ENST00000490131.5:c.2180T=	ENSP00000418685.1:p.Leu727=
ENST00000490131.7:c.1949T=	ENSP00000418685.2:p.Leu650=
ENST00000498619.2:c.2210T=	ENSP00000420194.1:p.Leu737=
ENST00000498619.4:c.2210T=	ENSP00000420194.1:p.Leu737=
ENST00000638421.1:c.2180T=	ENSP00000492190.1:p.Leu727=
XM_005247836.2:c.2180T=	XP_005247893.1:p.Leu727=
XM_005247837.2:c.1697T=	XP_005247894.1:p.Leu566=
XM_006713789.2:c.2180T=	XP_006713852.1:p.Leu727=
XM_006713789.3:c.2180T=	XP_006713852.1:p.Leu727=
XM_011513237.1:c.2180T=	XP_011511539.1:p.Leu727=
XM_011513238.1:c.2180T=	XP_011511540.1:p.Leu727=
XM_011513239.1:c.1592T=	XP_011511541.1:p.Leu531=
XM_017007324.1:c.2180T=	XP_016862813.1:p.Leu727=
XM_017007325.1:c.2180T=	XP_016862814.1:p.Leu727=