Canonical Allele Identifier: CA500844343

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50188129-A-C
• MyVariant Identifiers: chr17:g.48265490A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188129A>C , CM000679.2:g.50188129A>C	GRCh38
NC_000017.10:g.48265490A>C , CM000679.1:g.48265490A>C	GRCh37
NC_000017.9:g.45620489A>C	NCBI36
NG_007400.1:g.18511T>G , LRG_1:g.18511T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3228T>G MANE Select	ENSP00000225964.6:p.Gly1076=
ENST00000225964.9:c.3228T>G	ENSP00000225964.5:p.Gly1076=
ENST00000486572.1:n.426T>G
ENST00000511732.1:n.552T>G
NM_000088.3:c.3228T>G , LRG_1t1:c.3228T>G	NP_000079.2:p.Gly1076=
XM_005257058.3:c.2958T>G	XP_005257115.2:p.Gly986=
XM_005257059.3:c.2310T>G	XP_005257116.2:p.Gly770=
XM_011524341.1:c.3030T>G	XP_011522643.1:p.Gly1010=
XM_005257058.4:c.2958T>G	XP_005257115.2:p.Gly986=
XM_005257059.4:c.2310T>G	XP_005257116.2:p.Gly770=
NM_000088.4:c.3228T>G MANE Select	NP_000079.2:p.Gly1076=