Canonical Allele Identifier: CA400200701

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48265913T>C (hg19) ; chr17:g.50188552T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188552T>C , CM000679.2:g.50188552T>C	GRCh38
NC_000017.10:g.48265913T>C , CM000679.1:g.48265913T>C	GRCh37
NC_000017.9:g.45620912T>C	NCBI36
NG_007400.1:g.18088A>G , LRG_1:g.18088A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3185A>G MANE Select	ENSP00000225964.6:p.Lys1062Arg
ENST00000225964.9:c.3185A>G	ENSP00000225964.5:p.Lys1062Arg
ENST00000486572.1:n.3A>G
ENST00000511732.1:n.129A>G
NM_000088.3:c.3185A>G , LRG_1t1:c.3185A>G	NP_000079.2:p.Lys1062Arg
XM_005257058.3:c.2915A>G	XP_005257115.2:p.Lys972Arg
XM_005257059.3:c.2267A>G	XP_005257116.2:p.Lys756Arg
XM_011524341.1:c.2987A>G	XP_011522643.1:p.Lys996Arg
XM_005257058.4:c.2915A>G	XP_005257115.2:p.Lys972Arg
XM_005257059.4:c.2267A>G	XP_005257116.2:p.Lys756Arg
NM_000088.4:c.3185A>G MANE Select	NP_000079.2:p.Lys1062Arg