Canonical Allele Identifier: CA119525

Gene: CASR

Linked Data

• ClinVar Variation Id: 8346
• ClinVar RCV Id: RCV000008851 ; RCV000190877 ; RCV001781207 ; RCV002482843 ; RCV003764538
• dbSNP Id: rs104893708
• MyVariant Identifiers: chr3:g.121976116T>C (hg19) ; chr3:g.122257269T>C (hg38)
• PubMed: PMID:12107202 ; PMID:12191970

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257269T>C , CM000665.2:g.122257269T>C	GRCh38
NC_000003.11:g.121976116T>C , CM000665.1:g.121976116T>C	GRCh37
NC_000003.10:g.123458806T>C	NCBI36
NG_009058.1:g.78587T>C
NG_009058.2:g.78602T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.374T>C	ENSP00000418685.2:p.Leu125Pro
ENST00000498619.4:c.374T>C	ENSP00000420194.1:p.Leu125Pro
ENST00000638296.1:n.293T>C
ENST00000638421.1:c.374T>C	ENSP00000492190.1:p.Leu125Pro
ENST00000639785.2:c.374T>C MANE Select	ENSP00000491584.2:p.Leu125Pro
ENST00000490131.5:c.374T>C	ENSP00000418685.1:p.Leu125Pro
ENST00000490186.1:n.233T>C
ENST00000498619.2:c.374T>C	ENSP00000420194.1:p.Leu125Pro
NM_000388.3:c.374T>C	NP_000379.2:p.Leu125Pro
NM_001178065.1:c.374T>C	NP_001171536.1:p.Leu125Pro
XM_005247836.2:c.374T>C	XP_005247893.1:p.Leu125Pro
XM_005247837.2:c.9+2895T>C	XP_005247894.1:n.9+2895T>C
XM_006713789.2:c.374T>C	XP_006713852.1:p.Leu125Pro
XM_011513237.1:c.374T>C	XP_011511539.1:p.Leu125Pro
XM_011513238.1:c.374T>C	XP_011511540.1:p.Leu125Pro
XM_006713789.3:c.374T>C	XP_006713852.1:p.Leu125Pro
XM_017007324.1:c.374T>C	XP_016862813.1:p.Leu125Pro
XM_017007325.1:c.374T>C	XP_016862814.1:p.Leu125Pro
NM_000388.4:c.374T>C MANE Select	NP_000379.3:p.Leu125Pro
NM_001178065.2:c.374T>C	NP_001171536.2:p.Leu125Pro