Canonical Allele Identifier: CA400219587

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907509474
• gnomAD v3: 17-50195578-C-T
• gnomAD v4: 17-50195578-C-T
• MyVariant Identifiers: chr17:g.48272939C>T (hg19) ; chr17:g.50195578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195578C>T , CM000679.2:g.50195578C>T	GRCh38
NC_000017.10:g.48272939C>T , CM000679.1:g.48272939C>T	GRCh37
NC_000017.9:g.45627938C>T	NCBI36
NG_007400.1:g.11062G>A , LRG_1:g.11062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1144G>A MANE Select	ENSP00000225964.6:p.Ala382Thr
ENST00000225964.9:c.1144G>A	ENSP00000225964.5:p.Ala382Thr
ENST00000471344.1:n.88G>A
NM_000088.3:c.1144G>A , LRG_1t1:c.1144G>A	NP_000079.2:p.Ala382Thr
XM_005257058.3:c.1144G>A	XP_005257115.2:p.Ala382Thr
XM_005257059.3:c.957+736G>A	XP_005257116.2:n.957+736G>A
XM_011524341.1:c.958-100G>A	XP_011522643.1:n.958-100G>A
XM_005257058.4:c.1144G>A	XP_005257115.2:p.Ala382Thr
XM_005257059.4:c.957+736G>A	XP_005257116.2:n.957+736G>A
NM_000088.4:c.1144G>A MANE Select	NP_000079.2:p.Ala382Thr