Canonical Allele Identifier: CA377377204

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84211678G>T , CM000672.2:g.84211678G>T	GRCh38
NC_000010.10:g.85971434G>T , CM000672.1:g.85971434G>T	GRCh37
NC_000010.9:g.85961414G>T	NCBI36
NG_028034.1:g.22023G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.1516G>T MANE Select	NP_149091.1:p.Glu506Ter
ENST00000623527.4:c.1516G>T MANE Select	ENSP00000485478.1:p.Glu506Ter
NM_001171971.2:c.1516G>T	NP_001165442.1:p.Glu506Ter
NM_001171971.3:c.1516G>T	NP_001165442.1:p.Glu506Ter
NM_033100.3:c.1516G>T	NP_149091.1:p.Glu506Ter
ENST00000332904.7:c.1516G>T	ENSP00000331063.3:p.Glu506Ter
ENST00000372117.6:c.731G>T
ENST00000622973.1:c.249G>T
ENST00000623527.3:c.1516G>T	ENSP00000485478.1:p.Glu506Ter
XM_011540337.1:c.1690G>T	XP_011538639.1:p.Glu564Ter
XM_011540338.1:c.1690G>T	XP_011538640.1:p.Glu564Ter
XM_011540339.1:c.1069G>T	XP_011538641.1:p.Glu357Ter
XM_011540340.1:c.1690G>T	XP_011538642.1:p.Glu564Ter
XM_011540340.3:c.1690G>T	XP_011538642.1:p.Glu564Ter