Canonical Allele Identifier: CA500847863

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48270007T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192646T>C , CM000679.2:g.50192646T>C	GRCh38
NC_000017.10:g.48270007T>C , CM000679.1:g.48270007T>C	GRCh37
NC_000017.9:g.45625006T>C	NCBI36
NG_007400.1:g.13994A>G , LRG_1:g.13994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1923A>G MANE Select	ENSP00000225964.6:p.Gly641=
ENST00000225964.9:c.1923A>G	ENSP00000225964.5:p.Gly641=
ENST00000476387.1:n.272A>G
NM_000088.3:c.1923A>G , LRG_1t1:c.1923A>G	NP_000079.2:p.Gly641=
XM_005257058.3:c.1923A>G	XP_005257115.2:p.Gly641=
XM_005257059.3:c.1005A>G	XP_005257116.2:p.Gly335=
XM_011524341.1:c.1725A>G	XP_011522643.1:p.Gly575=
XM_005257058.4:c.1923A>G	XP_005257115.2:p.Gly641=
XM_005257059.4:c.1005A>G	XP_005257116.2:p.Gly335=
NM_000088.4:c.1923A>G MANE Select	NP_000079.2:p.Gly641=