Canonical Allele Identifier: CA8645411

Gene: COL1A1

Linked Data

• dbSNP Id: rs763274991
• ExAC: 17:48273245 C / T
• gnomAD v2: 17-48273245-C-T
• gnomAD v4: 17-50195884-C-T
• MyVariant Identifiers: chr17:g.48273245C>T (hg19) ; chr17:g.50195884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195884C>T , CM000679.2:g.50195884C>T	GRCh38
NC_000017.10:g.48273245C>T , CM000679.1:g.48273245C>T	GRCh37
NC_000017.9:g.45628244C>T	NCBI36
NG_007400.1:g.10756G>A , LRG_1:g.10756G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1056+39G>A MANE Select	ENSP00000225964.6:n.1056+39G>A
ENST00000225964.9:c.1056+39G>A	ENSP00000225964.5:n.1056+39G>A
NM_000088.3:c.1056+39G>A , LRG_1t1:c.1056+39G>A	NP_000079.2:n.1056+39G>A
XM_005257058.3:c.1056+39G>A	XP_005257115.2:n.1056+39G>A
XM_005257059.3:c.957+430G>A	XP_005257116.2:n.957+430G>A
XM_011524341.1:c.958-406G>A	XP_011522643.1:n.958-406G>A
XM_005257058.4:c.1056+39G>A	XP_005257115.2:n.1056+39G>A
XM_005257059.4:c.957+430G>A	XP_005257116.2:n.957+430G>A
NM_000088.4:c.1056+39G>A MANE Select	NP_000079.2:n.1056+39G>A