Canonical Allele Identifier: CA400191667

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2138065
• ClinVar RCV Id: RCV003050484
• MyVariant Identifiers: chr17:g.48263194A>C (hg19) ; chr17:g.50185833A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185833A>C , CM000679.2:g.50185833A>C	GRCh38
NC_000017.10:g.48263194A>C , CM000679.1:g.48263194A>C	GRCh37
NC_000017.9:g.45618193A>C	NCBI36
NG_007400.1:g.20807T>G , LRG_1:g.20807T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4193T>G MANE Select	ENSP00000225964.6:p.Ile1398Ser
ENST00000225964.9:c.4193T>G	ENSP00000225964.5:p.Ile1398Ser
NM_000088.3:c.4193T>G , LRG_1t1:c.4193T>G	NP_000079.2:p.Ile1398Ser
XM_005257058.3:c.3923T>G	XP_005257115.2:p.Ile1308Ser
XM_005257059.3:c.3275T>G	XP_005257116.2:p.Ile1092Ser
XM_011524341.1:c.3995T>G	XP_011522643.1:p.Ile1332Ser
XM_005257058.4:c.3923T>G	XP_005257115.2:p.Ile1308Ser
XM_005257059.4:c.3275T>G	XP_005257116.2:p.Ile1092Ser
NM_000088.4:c.4193T>G MANE Select	NP_000079.2:p.Ile1398Ser