Canonical Allele Identifier: CA500842687

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48262884A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185523A>T , CM000679.2:g.50185523A>T	GRCh38
NC_000017.10:g.48262884A>T , CM000679.1:g.48262884A>T	GRCh37
NC_000017.9:g.45617883A>T	NCBI36
NG_007400.1:g.21117T>A , LRG_1:g.21117T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4374T>A MANE Select	ENSP00000225964.6:p.Val1458=
ENST00000225964.9:c.4374T>A	ENSP00000225964.5:p.Val1458=
NM_000088.3:c.4374T>A , LRG_1t1:c.4374T>A	NP_000079.2:p.Val1458=
XM_005257058.3:c.4104T>A	XP_005257115.2:p.Val1368=
XM_005257059.3:c.3456T>A	XP_005257116.2:p.Val1152=
XM_011524341.1:c.4176T>A	XP_011522643.1:p.Val1392=
XM_005257058.4:c.4104T>A	XP_005257115.2:p.Val1368=
XM_005257059.4:c.3456T>A	XP_005257116.2:p.Val1152=
NM_000088.4:c.4374T>A MANE Select	NP_000079.2:p.Val1458=