Canonical Allele Identifier: CA500844373

Gene: COL1A1

Linked Data

• dbSNP Id: rs1431543092
• gnomAD v2: 17-48265891-A-C
• MyVariant Identifiers: chr17:g.48265891A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188530A>C , CM000679.2:g.50188530A>C	GRCh38
NC_000017.10:g.48265891A>C , CM000679.1:g.48265891A>C	GRCh37
NC_000017.9:g.45620890A>C	NCBI36
NG_007400.1:g.18110T>G , LRG_1:g.18110T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3207T>G MANE Select	ENSP00000225964.6:p.Thr1069=
ENST00000225964.9:c.3207T>G	ENSP00000225964.5:p.Thr1069=
ENST00000486572.1:n.25T>G
ENST00000511732.1:n.151T>G
NM_000088.3:c.3207T>G , LRG_1t1:c.3207T>G	NP_000079.2:p.Thr1069=
XM_005257058.3:c.2937T>G	XP_005257115.2:p.Thr979=
XM_005257059.3:c.2289T>G	XP_005257116.2:p.Thr763=
XM_011524341.1:c.3009T>G	XP_011522643.1:p.Thr1003=
XM_005257058.4:c.2937T>G	XP_005257115.2:p.Thr979=
XM_005257059.4:c.2289T>G	XP_005257116.2:p.Thr763=
NM_000088.4:c.3207T>G MANE Select	NP_000079.2:p.Thr1069=