Canonical Allele Identifier: CA500850979

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1798871
• ClinVar RCV Id: RCV002435842
• dbSNP Id: rs1907511472
• MyVariant Identifiers: chr17:g.48272958G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195597G>T , CM000679.2:g.50195597G>T	GRCh38
NC_000017.10:g.48272958G>T , CM000679.1:g.48272958G>T	GRCh37
NC_000017.9:g.45627957G>T	NCBI36
NG_007400.1:g.11043C>A , LRG_1:g.11043C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1125C>A MANE Select	ENSP00000225964.6:p.Pro375=
ENST00000225964.9:c.1125C>A	ENSP00000225964.5:p.Pro375=
ENST00000471344.1:n.69C>A
NM_000088.3:c.1125C>A , LRG_1t1:c.1125C>A	NP_000079.2:p.Pro375=
XM_005257058.3:c.1125C>A	XP_005257115.2:p.Pro375=
XM_005257059.3:c.957+717C>A	XP_005257116.2:n.957+717C>A
XM_011524341.1:c.958-119C>A	XP_011522643.1:n.958-119C>A
XM_005257058.4:c.1125C>A	XP_005257115.2:p.Pro375=
XM_005257059.4:c.957+717C>A	XP_005257116.2:n.957+717C>A
NM_000088.4:c.1125C>A MANE Select	NP_000079.2:p.Pro375=