Canonical Allele Identifier: CA500848514

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48271373T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194012T>G , CM000679.2:g.50194012T>G	GRCh38
NC_000017.10:g.48271373T>G , CM000679.1:g.48271373T>G	GRCh37
NC_000017.9:g.45626372T>G	NCBI36
NG_007400.1:g.12628A>C , LRG_1:g.12628A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1698A>C MANE Select	ENSP00000225964.6:p.Gly566=
ENST00000225964.9:c.1698A>C	ENSP00000225964.5:p.Gly566=
ENST00000463440.1:n.88A>C
ENST00000471344.1:n.730A>C
ENST00000476387.1:n.47A>C
NM_000088.3:c.1698A>C , LRG_1t1:c.1698A>C	NP_000079.2:p.Gly566=
XM_005257058.3:c.1698A>C	XP_005257115.2:p.Gly566=
XM_005257059.3:c.958-1319A>C	XP_005257116.2:n.958-1319A>C
XM_011524341.1:c.1500A>C	XP_011522643.1:p.Gly500=
XM_005257058.4:c.1698A>C	XP_005257115.2:p.Gly566=
XM_005257059.4:c.958-1319A>C	XP_005257116.2:n.958-1319A>C
NM_000088.4:c.1698A>C MANE Select	NP_000079.2:p.Gly566=