Canonical Allele Identifier: CA411922927

Gene: CELSR1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46436282T>A , CM000684.2:g.46436282T>A	GRCh38
NC_000022.10:g.46832179T>A , CM000684.1:g.46832179T>A	GRCh37
NC_000022.9:g.45210843T>A	NCBI36
NG_030466.1:g.105889A>T
NG_030466.2:g.105889A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378328.1:c.4414A>T MANE Select	NP_001365257.1:p.Thr1472Ser
ENST00000674500.2:c.4414A>T MANE Select	ENSP00000501367.2:p.Thr1472Ser
NM_014246.1:c.4414A>T	NP_055061.1:p.Thr1472Ser
NM_014246.2:c.4414A>T	NP_055061.1:p.Thr1472Ser
NM_014246.3:c.4414A>T	NP_055061.1:p.Thr1472Ser
NM_014246.4:c.4414A>T	NP_055061.1:p.Thr1472Ser
ENST00000262738.7:c.4414A>T	ENSP00000262738.3:p.Thr1472Ser
ENST00000262738.9:c.4414A>T	ENSP00000262738.3:p.Thr1472Ser
XM_006724383.2:c.4414A>T	XP_006724446.1:p.Thr1472Ser
XM_006724383.3:c.4414A>T	XP_006724446.1:p.Thr1472Ser
XM_011530553.1:c.4414A>T	XP_011528855.1:p.Thr1472Ser
XM_011530554.1:c.907A>T	XP_011528856.1:p.Thr303Ser
XM_011530554.2:c.907A>T	XP_011528856.1:p.Thr303Ser
XM_011530555.1:c.811A>T	XP_011528857.1:p.Thr271Ser
XM_011530555.2:c.811A>T	XP_011528857.1:p.Thr271Ser