Canonical Allele Identifier: CA8644195

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 456788
• ClinVar RCV Id: RCV000541457 ; RCV000610008 ; RCV002330827 ; RCV003736804
• dbSNP Id: rs144134990
• ExAC: 17:48263001 G / A
• gnomAD v2: 17-48263001-G-A
• gnomAD v3: 17-50185640-G-A
• gnomAD v4: 17-50185640-G-A
• MyVariant Identifiers: chr17:g.48263001G>A (hg19) ; chr17:g.50185640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185640G>A , CM000679.2:g.50185640G>A	GRCh38
NC_000017.10:g.48263001G>A , CM000679.1:g.48263001G>A	GRCh37
NC_000017.9:g.45618000G>A	NCBI36
NG_007400.1:g.21000C>T , LRG_1:g.21000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4257C>T MANE Select	ENSP00000225964.6:p.Thr1419=
ENST00000225964.9:c.4257C>T	ENSP00000225964.5:p.Thr1419=
NM_000088.3:c.4257C>T , LRG_1t1:c.4257C>T	NP_000079.2:p.Thr1419=
XM_005257058.3:c.3987C>T	XP_005257115.2:p.Thr1329=
XM_005257059.3:c.3339C>T	XP_005257116.2:p.Thr1113=
XM_011524341.1:c.4059C>T	XP_011522643.1:p.Thr1353=
XM_005257058.4:c.3987C>T	XP_005257115.2:p.Thr1329=
XM_005257059.4:c.3339C>T	XP_005257116.2:p.Thr1113=
NM_000088.4:c.4257C>T MANE Select	NP_000079.2:p.Thr1419=