Canonical Allele Identifier: CA400191800

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263222G>C (hg19) ; chr17:g.50185861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185861G>C , CM000679.2:g.50185861G>C	GRCh38
NC_000017.10:g.48263222G>C , CM000679.1:g.48263222G>C	GRCh37
NC_000017.9:g.45618221G>C	NCBI36
NG_007400.1:g.20779C>G , LRG_1:g.20779C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4165C>G MANE Select	ENSP00000225964.6:p.Leu1389Val
ENST00000225964.9:c.4165C>G	ENSP00000225964.5:p.Leu1389Val
ENST00000510710.3:n.1130C>G
NM_000088.3:c.4165C>G , LRG_1t1:c.4165C>G	NP_000079.2:p.Leu1389Val
XM_005257058.3:c.3895C>G	XP_005257115.2:p.Leu1299Val
XM_005257059.3:c.3247C>G	XP_005257116.2:p.Leu1083Val
XM_011524341.1:c.3967C>G	XP_011522643.1:p.Leu1323Val
XM_005257058.4:c.3895C>G	XP_005257115.2:p.Leu1299Val
XM_005257059.4:c.3247C>G	XP_005257116.2:p.Leu1083Val
NM_000088.4:c.4165C>G MANE Select	NP_000079.2:p.Leu1389Val