Canonical Allele Identifier: CA400211889

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50191853G>C , CM000679.2:g.50191853G>C	GRCh38
NC_000017.10:g.48269214G>C , CM000679.1:g.48269214G>C	GRCh37
NC_000017.9:g.45624213G>C	NCBI36
NG_007400.1:g.14787C>G , LRG_1:g.14787C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2062C>G MANE Select	NP_000079.2:p.Gln688Glu
ENST00000225964.10:c.2062C>G MANE Select	ENSP00000225964.6:p.Gln688Glu
NM_000088.3:c.2062C>G , LRG_1t1:c.2062C>G	NP_000079.2:p.Gln688Glu
ENST00000225964.9:c.2062C>G	ENSP00000225964.5:p.Gln688Glu
ENST00000476387.1:n.411C>G
XM_005257058.3:c.2062C>G	XP_005257115.2:p.Gln688Glu
XM_005257058.4:c.2062C>G	XP_005257115.2:p.Gln688Glu
XM_005257059.3:c.1144C>G	XP_005257116.2:p.Gln382Glu
XM_005257059.4:c.1144C>G	XP_005257116.2:p.Gln382Glu
XM_011524341.1:c.1864C>G	XP_011522643.1:p.Gln622Glu