Canonical Allele Identifier: CA2392171584

Gene: COL18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476390G= , CM000683.2:g.45476390G=	GRCh38
NC_000021.8:g.46896304G= , CM000683.1:g.46896304G=	GRCh37
NC_000021.7:g.45720732G=	NCBI36
NG_011903.1:g.76208G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.1378G=	ENSP00000347665.5:p.Val460=
ENST00000651438.1:c.838G= MANE Select	ENSP00000498485.1:p.Val280=
ENST00000355480.9:c.1378G=	ENSP00000347665.5:p.Val460=
ENST00000359759.8:c.2083G=	ENSP00000352798.4:p.Val695=
ENST00000400337.6:c.838G=	ENSP00000383191.2:p.Val280=
NM_030582.3:c.1378G=	NP_085059.2:p.Val460=
NM_130444.2:c.2083G=	NP_569711.2:p.Val695=
NM_130445.3:c.838G=	NP_569712.2:p.Val280=
NM_030582.4:c.1378G=	NP_085059.2:p.Val460=
NM_130444.3:c.2083G=	NP_569711.2:p.Val695=
NM_130445.4:c.838G=	NP_569712.2:p.Val280=
NM_001379500.1:c.838G= MANE Select	NP_001366429.1:p.Val280=