Canonical Allele Identifier: CA400191488

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263170A>C (hg19) ; chr17:g.50185809A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185809A>C , CM000679.2:g.50185809A>C	GRCh38
NC_000017.10:g.48263170A>C , CM000679.1:g.48263170A>C	GRCh37
NC_000017.9:g.45618169A>C	NCBI36
NG_007400.1:g.20831T>G , LRG_1:g.20831T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4217T>G MANE Select	ENSP00000225964.6:p.Phe1406Cys
ENST00000225964.9:c.4217T>G	ENSP00000225964.5:p.Phe1406Cys
NM_000088.3:c.4217T>G , LRG_1t1:c.4217T>G	NP_000079.2:p.Phe1406Cys
XM_005257058.3:c.3947T>G	XP_005257115.2:p.Phe1316Cys
XM_005257059.3:c.3299T>G	XP_005257116.2:p.Phe1100Cys
XM_011524341.1:c.4019T>G	XP_011522643.1:p.Phe1340Cys
XM_005257058.4:c.3947T>G	XP_005257115.2:p.Phe1316Cys
XM_005257059.4:c.3299T>G	XP_005257116.2:p.Phe1100Cys
NM_000088.4:c.4217T>G MANE Select	NP_000079.2:p.Phe1406Cys