Canonical Allele Identifier: CA291542797

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1306911
• ClinVar RCV Id: RCV001772369
• dbSNP Id: rs756188663
• gnomAD v2: 17-48263246-T-C
• gnomAD v4: 17-50185885-T-C
• MyVariant Identifiers: chr17:g.48263246T>C (hg19) ; chr17:g.50185885T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185885T>C , CM000679.2:g.50185885T>C	GRCh38
NC_000017.10:g.48263246T>C , CM000679.1:g.48263246T>C	GRCh37
NC_000017.9:g.45618245T>C	NCBI36
NG_007400.1:g.20755A>G , LRG_1:g.20755A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4141A>G MANE Select	ENSP00000225964.6:p.Thr1381Ala
ENST00000225964.9:c.4141A>G	ENSP00000225964.5:p.Thr1381Ala
ENST00000510710.3:n.1106A>G
NM_000088.3:c.4141A>G , LRG_1t1:c.4141A>G	NP_000079.2:p.Thr1381Ala
XM_005257058.3:c.3871A>G	XP_005257115.2:p.Thr1291Ala
XM_005257059.3:c.3223A>G	XP_005257116.2:p.Thr1075Ala
XM_011524341.1:c.3943A>G	XP_011522643.1:p.Thr1315Ala
XM_005257058.4:c.3871A>G	XP_005257115.2:p.Thr1291Ala
XM_005257059.4:c.3223A>G	XP_005257116.2:p.Thr1075Ala
NM_000088.4:c.4141A>G MANE Select	NP_000079.2:p.Thr1381Ala