Canonical Allele Identifier: CA400199913

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50187964C>G , CM000679.2:g.50187964C>G	GRCh38
NC_000017.10:g.48265325C>G , CM000679.1:g.48265325C>G	GRCh37
NC_000017.9:g.45620324C>G	NCBI36
NG_007400.1:g.18676G>C , LRG_1:g.18676G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3281G>C MANE Select	NP_000079.2:p.Gly1094Ala
ENST00000225964.10:c.3281G>C MANE Select	ENSP00000225964.6:p.Gly1094Ala
NM_000088.3:c.3281G>C , LRG_1t1:c.3281G>C	NP_000079.2:p.Gly1094Ala
ENST00000225964.9:c.3281G>C	ENSP00000225964.5:p.Gly1094Ala
ENST00000486572.1:n.479G>C
ENST00000511732.1:n.717G>C
XM_005257058.3:c.3011G>C	XP_005257115.2:p.Gly1004Ala
XM_005257058.4:c.3011G>C	XP_005257115.2:p.Gly1004Ala
XM_005257059.3:c.2363G>C	XP_005257116.2:p.Gly788Ala
XM_005257059.4:c.2363G>C	XP_005257116.2:p.Gly788Ala
XM_011524341.1:c.3083G>C	XP_011522643.1:p.Gly1028Ala