Canonical Allele Identifier: CA500852220

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1734358
• ClinVar RCV Id: RCV002349156
• MyVariant Identifiers: chr17:g.48276686T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199325T>A , CM000679.2:g.50199325T>A	GRCh38
NC_000017.10:g.48276686T>A , CM000679.1:g.48276686T>A	GRCh37
NC_000017.9:g.45631685T>A	NCBI36
NG_007400.1:g.7315A>T , LRG_1:g.7315A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.372A>T MANE Select	ENSP00000225964.6:p.Gly124=
ENST00000225964.9:c.372A>T	ENSP00000225964.5:p.Gly124=
ENST00000474644.1:n.593A>T
ENST00000507689.1:c.426A>T	ENSP00000460459.1:p.Gly142=
NM_000088.3:c.372A>T , LRG_1t1:c.372A>T	NP_000079.2:p.Gly124=
XM_005257058.3:c.372A>T	XP_005257115.2:p.Gly124=
XM_005257059.3:c.372A>T	XP_005257116.2:p.Gly124=
XM_011524341.1:c.372A>T	XP_011522643.1:p.Gly124=
XM_005257058.4:c.372A>T	XP_005257115.2:p.Gly124=
XM_005257059.4:c.372A>T	XP_005257116.2:p.Gly124=
NM_000088.4:c.372A>T MANE Select	NP_000079.2:p.Gly124=