Canonical Allele Identifier: CA8645020

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 995276
• ClinVar RCV Id: RCV001289257 ; RCV001495269 ; RCV002411931
• dbSNP Id: rs745564892
• ExAC: 17:48270010 G / A
• gnomAD v2: 17-48270010-G-A
• gnomAD v3: 17-50192649-G-A
• gnomAD v4: 17-50192649-G-A
• COSMIC: COSM1130236
• MyVariant Identifiers: chr17:g.48270010G>A (hg19) ; chr17:g.50192649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192649G>A , CM000679.2:g.50192649G>A	GRCh38
NC_000017.10:g.48270010G>A , CM000679.1:g.48270010G>A	GRCh37
NC_000017.9:g.45625009G>A	NCBI36
NG_007400.1:g.13991C>T , LRG_1:g.13991C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1920C>T MANE Select	ENSP00000225964.6:p.Pro640=
ENST00000225964.9:c.1920C>T	ENSP00000225964.5:p.Pro640=
ENST00000476387.1:n.269C>T
NM_000088.3:c.1920C>T , LRG_1t1:c.1920C>T	NP_000079.2:p.Pro640=
XM_005257058.3:c.1920C>T	XP_005257115.2:p.Pro640=
XM_005257059.3:c.1002C>T	XP_005257116.2:p.Pro334=
XM_011524341.1:c.1722C>T	XP_011522643.1:p.Pro574=
XM_005257058.4:c.1920C>T	XP_005257115.2:p.Pro640=
XM_005257059.4:c.1002C>T	XP_005257116.2:p.Pro334=
NM_000088.4:c.1920C>T MANE Select	NP_000079.2:p.Pro640=