Canonical Allele Identifier: CA400191699

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263200A>T (hg19) ; chr17:g.50185839A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185839A>T , CM000679.2:g.50185839A>T	GRCh38
NC_000017.10:g.48263200A>T , CM000679.1:g.48263200A>T	GRCh37
NC_000017.9:g.45618199A>T	NCBI36
NG_007400.1:g.20801T>A , LRG_1:g.20801T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4187T>A MANE Select	ENSP00000225964.6:p.Ile1396Asn
ENST00000225964.9:c.4187T>A	ENSP00000225964.5:p.Ile1396Asn
NM_000088.3:c.4187T>A , LRG_1t1:c.4187T>A	NP_000079.2:p.Ile1396Asn
XM_005257058.3:c.3917T>A	XP_005257115.2:p.Ile1306Asn
XM_005257059.3:c.3269T>A	XP_005257116.2:p.Ile1090Asn
XM_011524341.1:c.3989T>A	XP_011522643.1:p.Ile1330Asn
XM_005257058.4:c.3917T>A	XP_005257115.2:p.Ile1306Asn
XM_005257059.4:c.3269T>A	XP_005257116.2:p.Ile1090Asn
NM_000088.4:c.4187T>A MANE Select	NP_000079.2:p.Ile1396Asn