Canonical Allele Identifier: CA400191746

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2907210
• ClinVar RCV Id: RCV003632735
• gnomAD v4: 17-50185849-A-T
• MyVariant Identifiers: chr17:g.48263210A>T (hg19) ; chr17:g.50185849A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185849A>T , CM000679.2:g.50185849A>T	GRCh38
NC_000017.10:g.48263210A>T , CM000679.1:g.48263210A>T	GRCh37
NC_000017.9:g.45618209A>T	NCBI36
NG_007400.1:g.20791T>A , LRG_1:g.20791T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4177T>A MANE Select	ENSP00000225964.6:p.Ser1393Thr
ENST00000225964.9:c.4177T>A	ENSP00000225964.5:p.Ser1393Thr
ENST00000510710.3:n.1142T>A
NM_000088.3:c.4177T>A , LRG_1t1:c.4177T>A	NP_000079.2:p.Ser1393Thr
XM_005257058.3:c.3907T>A	XP_005257115.2:p.Ser1303Thr
XM_005257059.3:c.3259T>A	XP_005257116.2:p.Ser1087Thr
XM_011524341.1:c.3979T>A	XP_011522643.1:p.Ser1327Thr
XM_005257058.4:c.3907T>A	XP_005257115.2:p.Ser1303Thr
XM_005257059.4:c.3259T>A	XP_005257116.2:p.Ser1087Thr
NM_000088.4:c.4177T>A MANE Select	NP_000079.2:p.Ser1393Thr