Canonical Allele Identifier: CA2263918819

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195600G= , CM000679.2:g.50195600G=	GRCh38
NC_000017.10:g.48272961G= , CM000679.1:g.48272961G=	GRCh37
NC_000017.9:g.45627960G=	NCBI36
NG_007400.1:g.11040C= , LRG_1:g.11040C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1122C= MANE Select	ENSP00000225964.6:p.Gly374=
ENST00000225964.9:c.1122C=	ENSP00000225964.5:p.Gly374=
ENST00000471344.1:n.66C=
NM_000088.3:c.1122C= , LRG_1t1:c.1122C=	NP_000079.2:p.Gly374=
XM_005257058.3:c.1122C=	XP_005257115.2:p.Gly374=
XM_005257059.3:c.957+714C=	XP_005257116.2:n.957+714C=
XM_011524341.1:c.958-122C=	XP_011522643.1:n.958-122C=
XM_005257058.4:c.1122C=	XP_005257115.2:p.Gly374=
XM_005257059.4:c.957+714C=	XP_005257116.2:n.957+714C=
NM_000088.4:c.1122C= MANE Select	NP_000079.2:p.Gly374=