Canonical Allele Identifier: CA500991621

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185835-C-T
• MyVariant Identifiers: chr17:g.48263196C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185835C>T , CM000679.2:g.50185835C>T	GRCh38
NC_000017.10:g.48263196C>T , CM000679.1:g.48263196C>T	GRCh37
NC_000017.9:g.45618195C>T	NCBI36
NG_007400.1:g.20805G>A , LRG_1:g.20805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4191G>A MANE Select	ENSP00000225964.6:p.Glu1397=
ENST00000225964.9:c.4191G>A	ENSP00000225964.5:p.Glu1397=
NM_000088.3:c.4191G>A , LRG_1t1:c.4191G>A	NP_000079.2:p.Glu1397=
XM_005257058.3:c.3921G>A	XP_005257115.2:p.Glu1307=
XM_005257059.3:c.3273G>A	XP_005257116.2:p.Glu1091=
XM_011524341.1:c.3993G>A	XP_011522643.1:p.Glu1331=
XM_005257058.4:c.3921G>A	XP_005257115.2:p.Glu1307=
XM_005257059.4:c.3273G>A	XP_005257116.2:p.Glu1091=
NM_000088.4:c.4191G>A MANE Select	NP_000079.2:p.Glu1397=