Canonical Allele Identifier: CA8644222

Gene: COL1A1

Linked Data

• dbSNP Id: rs532172482
• ExAC: 17:48263151 G / T
• gnomAD v2: 17-48263151-G-T
• gnomAD v3: 17-50185790-G-T
• gnomAD v4: 17-50185790-G-T
• MyVariant Identifiers: chr17:g.48263151G>T (hg19) ; chr17:g.50185790G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185790G>T , CM000679.2:g.50185790G>T	GRCh38
NC_000017.10:g.48263151G>T , CM000679.1:g.48263151G>T	GRCh37
NC_000017.9:g.45618150G>T	NCBI36
NG_007400.1:g.20850C>A , LRG_1:g.20850C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4236C>A MANE Select	ENSP00000225964.6:p.Val1412=
ENST00000225964.9:c.4236C>A	ENSP00000225964.5:p.Val1412=
NM_000088.3:c.4236C>A , LRG_1t1:c.4236C>A	NP_000079.2:p.Val1412=
XM_005257058.3:c.3966C>A	XP_005257115.2:p.Val1322=
XM_005257059.3:c.3318C>A	XP_005257116.2:p.Val1106=
XM_011524341.1:c.4038C>A	XP_011522643.1:p.Val1346=
XM_005257058.4:c.3966C>A	XP_005257115.2:p.Val1322=
XM_005257059.4:c.3318C>A	XP_005257116.2:p.Val1106=
NM_000088.4:c.4236C>A MANE Select	NP_000079.2:p.Val1412=