Canonical Allele Identifier: CA2569891

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284875C>T , CM000665.2:g.122284875C>T	GRCh38
NC_000003.11:g.122003722C>T , CM000665.1:g.122003722C>T	GRCh37
NC_000003.10:g.123486412C>T	NCBI36
NG_009058.1:g.106193C>T
NG_009058.2:g.106208C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000388.4:c.2921C>T MANE Select	NP_000379.3:p.Thr974Ile
ENST00000639785.2:c.2921C>T MANE Select	ENSP00000491584.2:p.Thr974Ile
NM_000388.3:c.2921C>T	NP_000379.2:p.Thr974Ile
NM_001178065.1:c.2951C>T	NP_001171536.1:p.Thr984Ile
NM_001178065.2:c.2951C>T	NP_001171536.2:p.Thr984Ile
ENST00000490131.5:c.2921C>T	ENSP00000418685.1:p.Thr974Ile
ENST00000490131.7:c.2690C>T	ENSP00000418685.2:p.Thr897Ile
ENST00000498619.2:c.2951C>T	ENSP00000420194.1:p.Thr984Ile
ENST00000498619.4:c.2951C>T	ENSP00000420194.1:p.Thr984Ile
ENST00000638421.1:c.2921C>T	ENSP00000492190.1:p.Thr974Ile
XM_005247836.2:c.2921C>T	XP_005247893.1:p.Thr974Ile
XM_005247837.2:c.2438C>T	XP_005247894.1:p.Thr813Ile
XM_006713789.2:c.2921C>T	XP_006713852.1:p.Thr974Ile
XM_006713789.3:c.2921C>T	XP_006713852.1:p.Thr974Ile
XM_011513237.1:c.2921C>T	XP_011511539.1:p.Thr974Ile
XM_011513238.1:c.2921C>T	XP_011511540.1:p.Thr974Ile
XM_011513239.1:c.2333C>T	XP_011511541.1:p.Thr778Ile
XM_017007324.1:c.2921C>T	XP_016862813.1:p.Thr974Ile
XM_017007325.1:c.2921C>T	XP_016862814.1:p.Thr974Ile