Canonical Allele Identifier: CA5580108

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84213309C>T , CM000672.2:g.84213309C>T	GRCh38
NC_000010.10:g.85973065C>T , CM000672.1:g.85973065C>T	GRCh37
NC_000010.9:g.85963045C>T	NCBI36
NG_028034.1:g.23654C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.2001C>T MANE Select	NP_149091.1:p.Ser667=
ENST00000623527.4:c.2001C>T MANE Select	ENSP00000485478.1:p.Ser667=
NM_001171971.2:c.2001C>T	NP_001165442.1:p.Ser667=
NM_001171971.3:c.2001C>T	NP_001165442.1:p.Ser667=
NM_033100.3:c.2001C>T	NP_149091.1:p.Ser667=
ENST00000332904.7:c.2001C>T	ENSP00000331063.3:p.Ser667=
ENST00000372117.6:c.1216C>T
ENST00000459673.1:n.433C>T
ENST00000622973.1:c.619C>T
ENST00000623399.1:c.172C>T
ENST00000623527.3:c.2001C>T	ENSP00000485478.1:p.Ser667=
XM_011540337.1:c.2175C>T	XP_011538639.1:p.Ser725=
XM_011540338.1:c.2175C>T	XP_011538640.1:p.Ser725=
XM_011540339.1:c.1554C>T	XP_011538641.1:p.Ser518=