Canonical Allele Identifier: CA400200650

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48265908C>G (hg19) ; chr17:g.50188547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188547C>G , CM000679.2:g.50188547C>G	GRCh38
NC_000017.10:g.48265908C>G , CM000679.1:g.48265908C>G	GRCh37
NC_000017.9:g.45620907C>G	NCBI36
NG_007400.1:g.18093G>C , LRG_1:g.18093G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3190G>C MANE Select	ENSP00000225964.6:p.Gly1064Arg
ENST00000225964.9:c.3190G>C	ENSP00000225964.5:p.Gly1064Arg
ENST00000486572.1:n.8G>C
ENST00000511732.1:n.134G>C
NM_000088.3:c.3190G>C , LRG_1t1:c.3190G>C	NP_000079.2:p.Gly1064Arg
XM_005257058.3:c.2920G>C	XP_005257115.2:p.Gly974Arg
XM_005257059.3:c.2272G>C	XP_005257116.2:p.Gly758Arg
XM_011524341.1:c.2992G>C	XP_011522643.1:p.Gly998Arg
XM_005257058.4:c.2920G>C	XP_005257115.2:p.Gly974Arg
XM_005257059.4:c.2272G>C	XP_005257116.2:p.Gly758Arg
NM_000088.4:c.3190G>C MANE Select	NP_000079.2:p.Gly1064Arg