Canonical Allele Identifier: CA400218379

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194786-C-T
• MyVariant Identifiers: chr17:g.48272147C>T (hg19) ; chr17:g.50194786C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194786C>T , CM000679.2:g.50194786C>T	GRCh38
NC_000017.10:g.48272147C>T , CM000679.1:g.48272147C>T	GRCh37
NC_000017.9:g.45627146C>T	NCBI36
NG_007400.1:g.11854G>A , LRG_1:g.11854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1396G>A MANE Select	ENSP00000225964.6:p.Glu466Lys
ENST00000225964.9:c.1396G>A	ENSP00000225964.5:p.Glu466Lys
ENST00000471344.1:n.340G>A
NM_000088.3:c.1396G>A , LRG_1t1:c.1396G>A	NP_000079.2:p.Glu466Lys
XM_005257058.3:c.1396G>A	XP_005257115.2:p.Glu466Lys
XM_005257059.3:c.957+1528G>A	XP_005257116.2:n.957+1528G>A
XM_011524341.1:c.1198G>A	XP_011522643.1:p.Glu400Lys
XM_005257058.4:c.1396G>A	XP_005257115.2:p.Glu466Lys
XM_005257059.4:c.957+1528G>A	XP_005257116.2:n.957+1528G>A
NM_000088.4:c.1396G>A MANE Select	NP_000079.2:p.Glu466Lys