Canonical Allele Identifier: CA500850052

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48272136T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194775T>G , CM000679.2:g.50194775T>G	GRCh38
NC_000017.10:g.48272136T>G , CM000679.1:g.48272136T>G	GRCh37
NC_000017.9:g.45627135T>G	NCBI36
NG_007400.1:g.11865A>C , LRG_1:g.11865A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1407A>C MANE Select	ENSP00000225964.6:p.Arg469=
ENST00000225964.9:c.1407A>C	ENSP00000225964.5:p.Arg469=
ENST00000471344.1:n.351A>C
NM_000088.3:c.1407A>C , LRG_1t1:c.1407A>C	NP_000079.2:p.Arg469=
XM_005257058.3:c.1407A>C	XP_005257115.2:p.Arg469=
XM_005257059.3:c.957+1539A>C	XP_005257116.2:n.957+1539A>C
XM_011524341.1:c.1209A>C	XP_011522643.1:p.Arg403=
XM_005257058.4:c.1407A>C	XP_005257115.2:p.Arg469=
XM_005257059.4:c.957+1539A>C	XP_005257116.2:n.957+1539A>C
NM_000088.4:c.1407A>C MANE Select	NP_000079.2:p.Arg469=