Canonical Allele Identifier: CA8645094

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1138634
• ClinVar RCV Id: RCV001475055 ; RCV002414144
• dbSNP Id: rs370384784
• ExAC: 17:48270361 G / T
• gnomAD v2: 17-48270361-G-T
• gnomAD v3: 17-50193000-G-T
• gnomAD v4: 17-50193000-G-T
• MyVariant Identifiers: chr17:g.48270361G>T (hg19) ; chr17:g.50193000G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193000G>T , CM000679.2:g.50193000G>T	GRCh38
NC_000017.10:g.48270361G>T , CM000679.1:g.48270361G>T	GRCh37
NC_000017.9:g.45625360G>T	NCBI36
NG_007400.1:g.13640C>A , LRG_1:g.13640C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1815C>A MANE Select	ENSP00000225964.6:p.Gly605=
ENST00000225964.9:c.1815C>A	ENSP00000225964.5:p.Gly605=
ENST00000476387.1:n.164C>A
NM_000088.3:c.1815C>A , LRG_1t1:c.1815C>A	NP_000079.2:p.Gly605=
XM_005257058.3:c.1815C>A	XP_005257115.2:p.Gly605=
XM_005257059.3:c.958-307C>A	XP_005257116.2:n.958-307C>A
XM_011524341.1:c.1617C>A	XP_011522643.1:p.Gly539=
XM_005257058.4:c.1815C>A	XP_005257115.2:p.Gly605=
XM_005257059.4:c.958-307C>A	XP_005257116.2:n.958-307C>A
NM_000088.4:c.1815C>A MANE Select	NP_000079.2:p.Gly605=