Canonical Allele Identifier: CA2263918029

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194131G= , CM000679.2:g.50194131G=	GRCh38
NC_000017.10:g.48271492G= , CM000679.1:g.48271492G=	GRCh37
NC_000017.9:g.45626491G=	NCBI36
NG_007400.1:g.12509C= , LRG_1:g.12509C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1667C= MANE Select	ENSP00000225964.6:p.Pro556=
ENST00000225964.9:c.1667C=	ENSP00000225964.5:p.Pro556=
ENST00000463440.1:n.57C=
ENST00000471344.1:n.611C=
NM_000088.3:c.1667C= , LRG_1t1:c.1667C=	NP_000079.2:p.Pro556=
XM_005257058.3:c.1667C=	XP_005257115.2:p.Pro556=
XM_005257059.3:c.958-1438C=	XP_005257116.2:n.958-1438C=
XM_011524341.1:c.1469C=	XP_011522643.1:p.Pro490=
XM_005257058.4:c.1667C=	XP_005257115.2:p.Pro556=
XM_005257059.4:c.958-1438C=	XP_005257116.2:n.958-1438C=
NM_000088.4:c.1667C= MANE Select	NP_000079.2:p.Pro556=