Canonical Allele Identifier: CA400191698

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263200A>G (hg19) ; chr17:g.50185839A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185839A>G , CM000679.2:g.50185839A>G	GRCh38
NC_000017.10:g.48263200A>G , CM000679.1:g.48263200A>G	GRCh37
NC_000017.9:g.45618199A>G	NCBI36
NG_007400.1:g.20801T>C , LRG_1:g.20801T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4187T>C MANE Select	ENSP00000225964.6:p.Ile1396Thr
ENST00000225964.9:c.4187T>C	ENSP00000225964.5:p.Ile1396Thr
NM_000088.3:c.4187T>C , LRG_1t1:c.4187T>C	NP_000079.2:p.Ile1396Thr
XM_005257058.3:c.3917T>C	XP_005257115.2:p.Ile1306Thr
XM_005257059.3:c.3269T>C	XP_005257116.2:p.Ile1090Thr
XM_011524341.1:c.3989T>C	XP_011522643.1:p.Ile1330Thr
XM_005257058.4:c.3917T>C	XP_005257115.2:p.Ile1306Thr
XM_005257059.4:c.3269T>C	XP_005257116.2:p.Ile1090Thr
NM_000088.4:c.4187T>C MANE Select	NP_000079.2:p.Ile1396Thr