Canonical Allele Identifier: CA291542759

Gene: COL1A1

Linked Data

• dbSNP Id: rs1019705320
• gnomAD v4: 17-50185531-A-T
• MyVariant Identifiers: chr17:g.48262892A>T (hg19) ; chr17:g.50185531A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185531A>T , CM000679.2:g.50185531A>T	GRCh38
NC_000017.10:g.48262892A>T , CM000679.1:g.48262892A>T	GRCh37
NC_000017.9:g.45617891A>T	NCBI36
NG_007400.1:g.21109T>A , LRG_1:g.21109T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4366T>A MANE Select	ENSP00000225964.6:p.Phe1456Ile
ENST00000225964.9:c.4366T>A	ENSP00000225964.5:p.Phe1456Ile
NM_000088.3:c.4366T>A , LRG_1t1:c.4366T>A	NP_000079.2:p.Phe1456Ile
XM_005257058.3:c.4096T>A	XP_005257115.2:p.Phe1366Ile
XM_005257059.3:c.3448T>A	XP_005257116.2:p.Phe1150Ile
XM_011524341.1:c.4168T>A	XP_011522643.1:p.Phe1390Ile
XM_005257058.4:c.4096T>A	XP_005257115.2:p.Phe1366Ile
XM_005257059.4:c.3448T>A	XP_005257116.2:p.Phe1150Ile
NM_000088.4:c.4366T>A MANE Select	NP_000079.2:p.Phe1456Ile