Canonical Allele Identifier: CA400217735

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2727698
• ClinVar RCV Id: RCV003518558
• gnomAD v4: 17-50194758-G-T
• MyVariant Identifiers: chr17:g.48272119G>T (hg19) ; chr17:g.50194758G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194758G>T , CM000679.2:g.50194758G>T	GRCh38
NC_000017.10:g.48272119G>T , CM000679.1:g.48272119G>T	GRCh37
NC_000017.9:g.45627118G>T	NCBI36
NG_007400.1:g.11882C>A , LRG_1:g.11882C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1424C>A MANE Select	ENSP00000225964.6:p.Pro475His
ENST00000225964.9:c.1424C>A	ENSP00000225964.5:p.Pro475His
ENST00000471344.1:n.368C>A
NM_000088.3:c.1424C>A , LRG_1t1:c.1424C>A	NP_000079.2:p.Pro475His
XM_005257058.3:c.1424C>A	XP_005257115.2:p.Pro475His
XM_005257059.3:c.957+1556C>A	XP_005257116.2:n.957+1556C>A
XM_011524341.1:c.1226C>A	XP_011522643.1:p.Pro409His
XM_005257058.4:c.1424C>A	XP_005257115.2:p.Pro475His
XM_005257059.4:c.957+1556C>A	XP_005257116.2:n.957+1556C>A
NM_000088.4:c.1424C>A MANE Select	NP_000079.2:p.Pro475His