Canonical Allele Identifier: CA8644245

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 759058
• ClinVar RCV Id: RCV000936834 ; RCV001423851
• dbSNP Id: rs745816283
• ExAC: 17:48263211 G / A
• gnomAD v2: 17-48263211-G-A
• gnomAD v3: 17-50185850-G-A
• gnomAD v4: 17-50185850-G-A
• MyVariant Identifiers: chr17:g.48263211G>A (hg19) ; chr17:g.50185850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185850G>A , CM000679.2:g.50185850G>A	GRCh38
NC_000017.10:g.48263211G>A , CM000679.1:g.48263211G>A	GRCh37
NC_000017.9:g.45618210G>A	NCBI36
NG_007400.1:g.20790C>T , LRG_1:g.20790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4176C>T MANE Select	ENSP00000225964.6:p.Gly1392=
ENST00000225964.9:c.4176C>T	ENSP00000225964.5:p.Gly1392=
ENST00000510710.3:n.1141C>T
NM_000088.3:c.4176C>T , LRG_1t1:c.4176C>T	NP_000079.2:p.Gly1392=
XM_005257058.3:c.3906C>T	XP_005257115.2:p.Gly1302=
XM_005257059.3:c.3258C>T	XP_005257116.2:p.Gly1086=
XM_011524341.1:c.3978C>T	XP_011522643.1:p.Gly1326=
XM_005257058.4:c.3906C>T	XP_005257115.2:p.Gly1302=
XM_005257059.4:c.3258C>T	XP_005257116.2:p.Gly1086=
NM_000088.4:c.4176C>T MANE Select	NP_000079.2:p.Gly1392=