Canonical Allele Identifier: CA500847912

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48270037T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192676T>C , CM000679.2:g.50192676T>C	GRCh38
NC_000017.10:g.48270037T>C , CM000679.1:g.48270037T>C	GRCh37
NC_000017.9:g.45625036T>C	NCBI36
NG_007400.1:g.13964A>G , LRG_1:g.13964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1893A>G MANE Select	ENSP00000225964.6:p.Arg631=
ENST00000225964.9:c.1893A>G	ENSP00000225964.5:p.Arg631=
ENST00000476387.1:n.242A>G
NM_000088.3:c.1893A>G , LRG_1t1:c.1893A>G	NP_000079.2:p.Arg631=
XM_005257058.3:c.1893A>G	XP_005257115.2:p.Arg631=
XM_005257059.3:c.975A>G	XP_005257116.2:p.Arg325=
XM_011524341.1:c.1695A>G	XP_011522643.1:p.Arg565=
XM_005257058.4:c.1893A>G	XP_005257115.2:p.Arg631=
XM_005257059.4:c.975A>G	XP_005257116.2:p.Arg325=
NM_000088.4:c.1893A>G MANE Select	NP_000079.2:p.Arg631=