Canonical Allele Identifier: CA354156161

Gene: CASR

Linked Data

• COSMIC: COSM1670508
• MyVariant Identifiers: chr3:g.122000984G>T (hg19) ; chr3:g.122282137G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122282137G>T , CM000665.2:g.122282137G>T	GRCh38
NC_000003.11:g.122000984G>T , CM000665.1:g.122000984G>T	GRCh37
NC_000003.10:g.123483674G>T	NCBI36
NG_009058.1:g.103455G>T
NG_009058.2:g.103470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1402G>T	ENSP00000418685.2:p.Asp468Tyr
ENST00000498619.4:c.1663G>T	ENSP00000420194.1:p.Asp555Tyr
ENST00000638421.1:c.1633G>T	ENSP00000492190.1:p.Asp545Tyr
ENST00000639785.2:c.1633G>T MANE Select	ENSP00000491584.2:p.Asp545Tyr
ENST00000490131.5:c.1633G>T	ENSP00000418685.1:p.Asp545Tyr
ENST00000498619.2:c.1663G>T	ENSP00000420194.1:p.Asp555Tyr
NM_000388.3:c.1633G>T	NP_000379.2:p.Asp545Tyr
NM_001178065.1:c.1663G>T	NP_001171536.1:p.Asp555Tyr
XM_005247836.2:c.1633G>T	XP_005247893.1:p.Asp545Tyr
XM_005247837.2:c.1150G>T	XP_005247894.1:p.Asp384Tyr
XM_006713789.2:c.1633G>T	XP_006713852.1:p.Asp545Tyr
XM_011513237.1:c.1633G>T	XP_011511539.1:p.Asp545Tyr
XM_011513238.1:c.1633G>T	XP_011511540.1:p.Asp545Tyr
XM_011513239.1:c.1045G>T	XP_011511541.1:p.Asp349Tyr
XM_006713789.3:c.1633G>T	XP_006713852.1:p.Asp545Tyr
XM_017007324.1:c.1633G>T	XP_016862813.1:p.Asp545Tyr
XM_017007325.1:c.1633G>T	XP_016862814.1:p.Asp545Tyr
NM_000388.4:c.1633G>T MANE Select	NP_000379.3:p.Asp545Tyr
NM_001178065.2:c.1663G>T	NP_001171536.2:p.Asp555Tyr