Canonical Allele Identifier: CA8645041

Gene: COL1A1

Linked Data

• dbSNP Id: rs573943247
• ExAC: 17:48270097 C / T
• gnomAD v2: 17-48270097-C-T
• gnomAD v3: 17-50192736-C-T
• gnomAD v4: 17-50192736-C-T
• MyVariant Identifiers: chr17:g.48270097C>T (hg19) ; chr17:g.50192736C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192736C>T , CM000679.2:g.50192736C>T	GRCh38
NC_000017.10:g.48270097C>T , CM000679.1:g.48270097C>T	GRCh37
NC_000017.9:g.45625096C>T	NCBI36
NG_007400.1:g.13904G>A , LRG_1:g.13904G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1876-43G>A MANE Select	ENSP00000225964.6:n.1876-43G>A
ENST00000225964.9:c.1876-43G>A	ENSP00000225964.5:n.1876-43G>A
ENST00000476387.1:n.225-43G>A
NM_000088.3:c.1876-43G>A , LRG_1t1:c.1876-43G>A	NP_000079.2:n.1876-43G>A
XM_005257058.3:c.1876-43G>A	XP_005257115.2:n.1876-43G>A
XM_005257059.3:c.958-43G>A	XP_005257116.2:n.958-43G>A
XM_011524341.1:c.1678-43G>A	XP_011522643.1:n.1678-43G>A
XM_005257058.4:c.1876-43G>A	XP_005257115.2:n.1876-43G>A
XM_005257059.4:c.958-43G>A	XP_005257116.2:n.958-43G>A
NM_000088.4:c.1876-43G>A MANE Select	NP_000079.2:n.1876-43G>A