Canonical Allele Identifier: CA400191818

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1687324
• ClinVar RCV Id: RCV002251006 ; RCV003094078
• dbSNP Id: rs1598284183
• MyVariant Identifiers: chr17:g.48263228C>T (hg19) ; chr17:g.50185867C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185867C>T , CM000679.2:g.50185867C>T	GRCh38
NC_000017.10:g.48263228C>T , CM000679.1:g.48263228C>T	GRCh37
NC_000017.9:g.45618227C>T	NCBI36
NG_007400.1:g.20773G>A , LRG_1:g.20773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4159G>A MANE Select	ENSP00000225964.6:p.Ala1387Thr
ENST00000225964.9:c.4159G>A	ENSP00000225964.5:p.Ala1387Thr
ENST00000510710.3:n.1124G>A
NM_000088.3:c.4159G>A , LRG_1t1:c.4159G>A	NP_000079.2:p.Ala1387Thr
XM_005257058.3:c.3889G>A	XP_005257115.2:p.Ala1297Thr
XM_005257059.3:c.3241G>A	XP_005257116.2:p.Ala1081Thr
XM_011524341.1:c.3961G>A	XP_011522643.1:p.Ala1321Thr
XM_005257058.4:c.3889G>A	XP_005257115.2:p.Ala1297Thr
XM_005257059.4:c.3241G>A	XP_005257116.2:p.Ala1081Thr
NM_000088.4:c.4159G>A MANE Select	NP_000079.2:p.Ala1387Thr