Canonical Allele Identifier: CA400220273

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195660T>G , CM000679.2:g.50195660T>G	GRCh38
NC_000017.10:g.48273021T>G , CM000679.1:g.48273021T>G	GRCh37
NC_000017.9:g.45628020T>G	NCBI36
NG_007400.1:g.10980A>C , LRG_1:g.10980A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.1062A>C MANE Select	NP_000079.2:p.Glu354Asp
ENST00000225964.10:c.1062A>C MANE Select	ENSP00000225964.6:p.Glu354Asp
NM_000088.3:c.1062A>C , LRG_1t1:c.1062A>C	NP_000079.2:p.Glu354Asp
ENST00000225964.9:c.1062A>C	ENSP00000225964.5:p.Glu354Asp
ENST00000471344.1:n.6A>C
XM_005257058.3:c.1062A>C	XP_005257115.2:p.Glu354Asp
XM_005257058.4:c.1062A>C	XP_005257115.2:p.Glu354Asp
XM_005257059.3:c.957+654A>C	XP_005257116.2:n.957+654A>C
XM_005257059.4:c.957+654A>C	XP_005257116.2:n.957+654A>C
XM_011524341.1:c.958-182A>C	XP_011522643.1:n.958-182A>C