Canonical Allele Identifier: CA400217412

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194602-G-T
• MyVariant Identifiers: chr17:g.48271963G>T (hg19) ; chr17:g.50194602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194602G>T , CM000679.2:g.50194602G>T	GRCh38
NC_000017.10:g.48271963G>T , CM000679.1:g.48271963G>T	GRCh37
NC_000017.9:g.45626962G>T	NCBI36
NG_007400.1:g.12038C>A , LRG_1:g.12038C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1486C>A MANE Select	ENSP00000225964.6:p.Pro496Thr
ENST00000225964.9:c.1486C>A	ENSP00000225964.5:p.Pro496Thr
ENST00000471344.1:n.430C>A
NM_000088.3:c.1486C>A , LRG_1t1:c.1486C>A	NP_000079.2:p.Pro496Thr
XM_005257058.3:c.1486C>A	XP_005257115.2:p.Pro496Thr
XM_005257059.3:c.957+1712C>A	XP_005257116.2:n.957+1712C>A
XM_011524341.1:c.1288C>A	XP_011522643.1:p.Pro430Thr
XM_005257058.4:c.1486C>A	XP_005257115.2:p.Pro496Thr
XM_005257059.4:c.957+1712C>A	XP_005257116.2:n.957+1712C>A
NM_000088.4:c.1486C>A MANE Select	NP_000079.2:p.Pro496Thr