Canonical Allele Identifier: CA400192170

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185914-T-C
• MyVariant Identifiers: chr17:g.48263275T>C (hg19) ; chr17:g.50185914T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185914T>C , CM000679.2:g.50185914T>C	GRCh38
NC_000017.10:g.48263275T>C , CM000679.1:g.48263275T>C	GRCh37
NC_000017.9:g.45618274T>C	NCBI36
NG_007400.1:g.20726A>G , LRG_1:g.20726A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4112A>G MANE Select	ENSP00000225964.6:p.Lys1371Arg
ENST00000225964.9:c.4112A>G	ENSP00000225964.5:p.Lys1371Arg
ENST00000510710.3:n.1077A>G
NM_000088.3:c.4112A>G , LRG_1t1:c.4112A>G	NP_000079.2:p.Lys1371Arg
XM_005257058.3:c.3842A>G	XP_005257115.2:p.Lys1281Arg
XM_005257059.3:c.3194A>G	XP_005257116.2:p.Lys1065Arg
XM_011524341.1:c.3914A>G	XP_011522643.1:p.Lys1305Arg
XM_005257058.4:c.3842A>G	XP_005257115.2:p.Lys1281Arg
XM_005257059.4:c.3194A>G	XP_005257116.2:p.Lys1065Arg
NM_000088.4:c.4112A>G MANE Select	NP_000079.2:p.Lys1371Arg