Canonical Allele Identifier: CA500851025

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48273000T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195639T>A , CM000679.2:g.50195639T>A	GRCh38
NC_000017.10:g.48273000T>A , CM000679.1:g.48273000T>A	GRCh37
NC_000017.9:g.45627999T>A	NCBI36
NG_007400.1:g.11001A>T , LRG_1:g.11001A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1083A>T MANE Select	ENSP00000225964.6:p.Arg361=
ENST00000225964.9:c.1083A>T	ENSP00000225964.5:p.Arg361=
ENST00000471344.1:n.27A>T
NM_000088.3:c.1083A>T , LRG_1t1:c.1083A>T	NP_000079.2:p.Arg361=
XM_005257058.3:c.1083A>T	XP_005257115.2:p.Arg361=
XM_005257059.3:c.957+675A>T	XP_005257116.2:n.957+675A>T
XM_011524341.1:c.958-161A>T	XP_011522643.1:n.958-161A>T
XM_005257058.4:c.1083A>T	XP_005257115.2:p.Arg361=
XM_005257059.4:c.957+675A>T	XP_005257116.2:n.957+675A>T
NM_000088.4:c.1083A>T MANE Select	NP_000079.2:p.Arg361=