Canonical Allele Identifier: CA400215845

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 580741
• ClinVar RCV Id: RCV000704376
• dbSNP Id: rs1567759402
• MyVariant Identifiers: chr17:g.48271505T>A (hg19) ; chr17:g.50194144T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194144T>A , CM000679.2:g.50194144T>A	GRCh38
NC_000017.10:g.48271505T>A , CM000679.1:g.48271505T>A	GRCh37
NC_000017.9:g.45626504T>A	NCBI36
NG_007400.1:g.12496A>T , LRG_1:g.12496A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1654A>T MANE Select	ENSP00000225964.6:p.Lys552Ter
ENST00000225964.9:c.1654A>T	ENSP00000225964.5:p.Lys552Ter
ENST00000463440.1:n.44A>T
ENST00000471344.1:n.598A>T
NM_000088.3:c.1654A>T , LRG_1t1:c.1654A>T	NP_000079.2:p.Lys552Ter
XM_005257058.3:c.1654A>T	XP_005257115.2:p.Lys552Ter
XM_005257059.3:c.958-1451A>T	XP_005257116.2:n.958-1451A>T
XM_011524341.1:c.1456A>T	XP_011522643.1:p.Lys486Ter
XM_005257058.4:c.1654A>T	XP_005257115.2:p.Lys552Ter
XM_005257059.4:c.958-1451A>T	XP_005257116.2:n.958-1451A>T
NM_000088.4:c.1654A>T MANE Select	NP_000079.2:p.Lys552Ter