Canonical Allele Identifier: CA8644692

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 324106
• ClinVar RCV Id: RCV000283301 ; RCV000343018 ; RCV000392300 ; RCV001345234 ; RCV001533845 ; RCV002278493
• dbSNP Id: rs756337302
• ExAC: 17:48266824 G / A
• gnomAD v2: 17-48266824-G-A
• gnomAD v3: 17-50189463-G-A
• gnomAD v4: 17-50189463-G-A
• MyVariant Identifiers: chr17:g.48266824G>A (hg19) ; chr17:g.50189463G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189463G>A , CM000679.2:g.50189463G>A	GRCh38
NC_000017.10:g.48266824G>A , CM000679.1:g.48266824G>A	GRCh37
NC_000017.9:g.45621823G>A	NCBI36
NG_007400.1:g.17177C>T , LRG_1:g.17177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2743C>T MANE Select	ENSP00000225964.6:p.Pro915Ser
ENST00000225964.9:c.2743C>T	ENSP00000225964.5:p.Pro915Ser
NM_000088.3:c.2743C>T , LRG_1t1:c.2743C>T	NP_000079.2:p.Pro915Ser
XM_005257058.3:c.2667+216C>T	XP_005257115.2:n.2667+216C>T
XM_005257059.3:c.1825C>T	XP_005257116.2:p.Pro609Ser
XM_011524341.1:c.2545C>T	XP_011522643.1:p.Pro849Ser
XM_005257058.4:c.2667+216C>T	XP_005257115.2:n.2667+216C>T
XM_005257059.4:c.1825C>T	XP_005257116.2:p.Pro609Ser
NM_000088.4:c.2743C>T MANE Select	NP_000079.2:p.Pro915Ser