Canonical Allele Identifier: CA400214951

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48270395T>C (hg19) ; chr17:g.50193034T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193034T>C , CM000679.2:g.50193034T>C	GRCh38
NC_000017.10:g.48270395T>C , CM000679.1:g.48270395T>C	GRCh37
NC_000017.9:g.45625394T>C	NCBI36
NG_007400.1:g.13606A>G , LRG_1:g.13606A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1781A>G MANE Select	ENSP00000225964.6:p.Lys594Arg
ENST00000225964.9:c.1781A>G	ENSP00000225964.5:p.Lys594Arg
ENST00000476387.1:n.130A>G
NM_000088.3:c.1781A>G , LRG_1t1:c.1781A>G	NP_000079.2:p.Lys594Arg
XM_005257058.3:c.1781A>G	XP_005257115.2:p.Lys594Arg
XM_005257059.3:c.958-341A>G	XP_005257116.2:n.958-341A>G
XM_011524341.1:c.1583A>G	XP_011522643.1:p.Lys528Arg
XM_005257058.4:c.1781A>G	XP_005257115.2:p.Lys594Arg
XM_005257059.4:c.958-341A>G	XP_005257116.2:n.958-341A>G
NM_000088.4:c.1781A>G MANE Select	NP_000079.2:p.Lys594Arg