Canonical Allele Identifier: CA8645031

Gene: COL1A1

Linked Data

• dbSNP Id: rs755386580
• ExAC: 17:48270074 C / T
• gnomAD v2: 17-48270074-C-T
• gnomAD v4: 17-50192713-C-T
• MyVariant Identifiers: chr17:g.48270074C>T (hg19) ; chr17:g.50192713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192713C>T , CM000679.2:g.50192713C>T	GRCh38
NC_000017.10:g.48270074C>T , CM000679.1:g.48270074C>T	GRCh37
NC_000017.9:g.45625073C>T	NCBI36
NG_007400.1:g.13927G>A , LRG_1:g.13927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1876-20G>A MANE Select	ENSP00000225964.6:n.1876-20G>A
ENST00000225964.9:c.1876-20G>A	ENSP00000225964.5:n.1876-20G>A
ENST00000476387.1:n.225-20G>A
NM_000088.3:c.1876-20G>A , LRG_1t1:c.1876-20G>A	NP_000079.2:n.1876-20G>A
XM_005257058.3:c.1876-20G>A	XP_005257115.2:n.1876-20G>A
XM_005257059.3:c.958-20G>A	XP_005257116.2:n.958-20G>A
XM_011524341.1:c.1678-20G>A	XP_011522643.1:n.1678-20G>A
XM_005257058.4:c.1876-20G>A	XP_005257115.2:n.1876-20G>A
XM_005257059.4:c.958-20G>A	XP_005257116.2:n.958-20G>A
NM_000088.4:c.1876-20G>A MANE Select	NP_000079.2:n.1876-20G>A