Canonical Allele Identifier: CA500849640

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48271967A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194606A>G , CM000679.2:g.50194606A>G	GRCh38
NC_000017.10:g.48271967A>G , CM000679.1:g.48271967A>G	GRCh37
NC_000017.9:g.45626966A>G	NCBI36
NG_007400.1:g.12034T>C , LRG_1:g.12034T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1482T>C MANE Select	ENSP00000225964.6:p.Gly494=
ENST00000225964.9:c.1482T>C	ENSP00000225964.5:p.Gly494=
ENST00000471344.1:n.426T>C
NM_000088.3:c.1482T>C , LRG_1t1:c.1482T>C	NP_000079.2:p.Gly494=
XM_005257058.3:c.1482T>C	XP_005257115.2:p.Gly494=
XM_005257059.3:c.957+1708T>C	XP_005257116.2:n.957+1708T>C
XM_011524341.1:c.1284T>C	XP_011522643.1:p.Gly428=
XM_005257058.4:c.1482T>C	XP_005257115.2:p.Gly494=
XM_005257059.4:c.957+1708T>C	XP_005257116.2:n.957+1708T>C
NM_000088.4:c.1482T>C MANE Select	NP_000079.2:p.Gly494=