Canonical Allele Identifier: CA500991682

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2414646
• ClinVar RCV Id: RCV003108481
• MyVariant Identifiers: chr17:g.48263232C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185871C>T , CM000679.2:g.50185871C>T	GRCh38
NC_000017.10:g.48263232C>T , CM000679.1:g.48263232C>T	GRCh37
NC_000017.9:g.45618231C>T	NCBI36
NG_007400.1:g.20769G>A , LRG_1:g.20769G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4155G>A MANE Select	ENSP00000225964.6:p.Lys1385=
ENST00000225964.9:c.4155G>A	ENSP00000225964.5:p.Lys1385=
ENST00000510710.3:n.1120G>A
NM_000088.3:c.4155G>A , LRG_1t1:c.4155G>A	NP_000079.2:p.Lys1385=
XM_005257058.3:c.3885G>A	XP_005257115.2:p.Lys1295=
XM_005257059.3:c.3237G>A	XP_005257116.2:p.Lys1079=
XM_011524341.1:c.3957G>A	XP_011522643.1:p.Lys1319=
XM_005257058.4:c.3885G>A	XP_005257115.2:p.Lys1295=
XM_005257059.4:c.3237G>A	XP_005257116.2:p.Lys1079=
NM_000088.4:c.4155G>A MANE Select	NP_000079.2:p.Lys1385=