Canonical Allele Identifier: CA400217696

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194749-G-T
• MyVariant Identifiers: chr17:g.48272110G>T (hg19) ; chr17:g.50194749G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194749G>T , CM000679.2:g.50194749G>T	GRCh38
NC_000017.10:g.48272110G>T , CM000679.1:g.48272110G>T	GRCh37
NC_000017.9:g.45627109G>T	NCBI36
NG_007400.1:g.11891C>A , LRG_1:g.11891C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1433C>A MANE Select	ENSP00000225964.6:p.Thr478Asn
ENST00000225964.9:c.1433C>A	ENSP00000225964.5:p.Thr478Asn
ENST00000471344.1:n.377C>A
NM_000088.3:c.1433C>A , LRG_1t1:c.1433C>A	NP_000079.2:p.Thr478Asn
XM_005257058.3:c.1433C>A	XP_005257115.2:p.Thr478Asn
XM_005257059.3:c.957+1565C>A	XP_005257116.2:n.957+1565C>A
XM_011524341.1:c.1235C>A	XP_011522643.1:p.Thr412Asn
XM_005257058.4:c.1433C>A	XP_005257115.2:p.Thr478Asn
XM_005257059.4:c.957+1565C>A	XP_005257116.2:n.957+1565C>A
NM_000088.4:c.1433C>A MANE Select	NP_000079.2:p.Thr478Asn