Canonical Allele Identifier: CA291545001

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193950C>G , CM000679.2:g.50193950C>G	GRCh38
NC_000017.10:g.48271311C>G , CM000679.1:g.48271311C>G	GRCh37
NC_000017.9:g.45626310C>G	NCBI36
NG_007400.1:g.12690G>C , LRG_1:g.12690G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.1760G>C MANE Select	NP_000079.2:p.Gly587Ala
ENST00000225964.10:c.1760G>C MANE Select	ENSP00000225964.6:p.Gly587Ala
NM_000088.3:c.1760G>C , LRG_1t1:c.1760G>C	NP_000079.2:p.Gly587Ala
ENST00000225964.9:c.1760G>C	ENSP00000225964.5:p.Gly587Ala
ENST00000463440.1:n.150G>C
ENST00000471344.1:n.792G>C
ENST00000476387.1:n.109G>C
XM_005257058.3:c.1760G>C	XP_005257115.2:p.Gly587Ala
XM_005257058.4:c.1760G>C	XP_005257115.2:p.Gly587Ala
XM_005257059.3:c.958-1257G>C	XP_005257116.2:n.958-1257G>C
XM_005257059.4:c.958-1257G>C	XP_005257116.2:n.958-1257G>C
XM_011524341.1:c.1562G>C	XP_011522643.1:p.Gly521Ala