Canonical Allele Identifier: CA2263918846

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195643G= , CM000679.2:g.50195643G=	GRCh38
NC_000017.10:g.48273004G= , CM000679.1:g.48273004G=	GRCh37
NC_000017.9:g.45628003G=	NCBI36
NG_007400.1:g.10997C= , LRG_1:g.10997C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1079C= MANE Select	ENSP00000225964.6:p.Pro360=
ENST00000225964.9:c.1079C=	ENSP00000225964.5:p.Pro360=
ENST00000471344.1:n.23C=
NM_000088.3:c.1079C= , LRG_1t1:c.1079C=	NP_000079.2:p.Pro360=
XM_005257058.3:c.1079C=	XP_005257115.2:p.Pro360=
XM_005257059.3:c.957+671C=	XP_005257116.2:n.957+671C=
XM_011524341.1:c.958-165C=	XP_011522643.1:n.958-165C=
XM_005257058.4:c.1079C=	XP_005257115.2:p.Pro360=
XM_005257059.4:c.957+671C=	XP_005257116.2:n.957+671C=
NM_000088.4:c.1079C= MANE Select	NP_000079.2:p.Pro360=