Canonical Allele Identifier: CA2408723379

Gene: CELSR1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46390418T= , CM000684.2:g.46390418T=	GRCh38
NC_000022.10:g.46786315T= , CM000684.1:g.46786315T=	GRCh37
NC_000022.9:g.45164979T=	NCBI36
NG_030466.1:g.151753A=
NG_030466.2:g.151753A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001378328.1:c.6319A= MANE Select	NP_001365257.1:p.Ile2107=
ENST00000674500.2:c.6319A= MANE Select	ENSP00000501367.2:p.Ile2107=
NM_014246.1:c.6319A=	NP_055061.1:p.Ile2107=
NM_014246.2:c.6319A=	NP_055061.1:p.Ile2107=
NM_014246.3:c.6319A=	NP_055061.1:p.Ile2107=
NM_014246.4:c.6319A=	NP_055061.1:p.Ile2107=
ENST00000262738.7:c.6319A=	ENSP00000262738.3:p.Ile2107=
ENST00000262738.9:c.6319A=	ENSP00000262738.3:p.Ile2107=
ENST00000674341.1:n.1396A=
XM_006724383.2:c.6319A=	XP_006724446.1:p.Ile2107=
XM_006724383.3:c.6319A=	XP_006724446.1:p.Ile2107=
XM_011530554.1:c.2812A=	XP_011528856.1:p.Ile938=
XM_011530554.2:c.2812A=	XP_011528856.1:p.Ile938=
XM_011530555.1:c.2716A=	XP_011528857.1:p.Ile906=
XM_011530555.2:c.2716A=	XP_011528857.1:p.Ile906=