Canonical Allele Identifier: CA8645826

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199926T>C , CM000679.2:g.50199926T>C	GRCh38
NC_000017.10:g.48277287T>C , CM000679.1:g.48277287T>C	GRCh37
NC_000017.9:g.45632286T>C	NCBI36
NG_007400.1:g.6714A>G , LRG_1:g.6714A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.125A>G MANE Select	NP_000079.2:p.Gln42Arg
ENST00000225964.10:c.125A>G MANE Select	ENSP00000225964.6:p.Gln42Arg
NM_000088.3:c.125A>G , LRG_1t1:c.125A>G	NP_000079.2:p.Gln42Arg
ENST00000225964.9:c.125A>G	ENSP00000225964.5:p.Gln42Arg
ENST00000474644.1:n.244A>G
ENST00000507689.1:c.179A>G	ENSP00000460459.1:p.Gln60Arg
XM_005257058.3:c.125A>G	XP_005257115.2:p.Gln42Arg
XM_005257058.4:c.125A>G	XP_005257115.2:p.Gln42Arg
XM_005257059.3:c.125A>G	XP_005257116.2:p.Gln42Arg
XM_005257059.4:c.125A>G	XP_005257116.2:p.Gln42Arg
XM_011524341.1:c.125A>G	XP_011522643.1:p.Gln42Arg