Canonical Allele Identifier: CA400193867

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186473G>C , CM000679.2:g.50186473G>C	GRCh38
NC_000017.10:g.48263834G>C , CM000679.1:g.48263834G>C	GRCh37
NC_000017.9:g.45618833G>C	NCBI36
NG_007400.1:g.20167C>G , LRG_1:g.20167C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3849C>G MANE Select	NP_000079.2:p.Asn1283Lys
ENST00000225964.10:c.3849C>G MANE Select	ENSP00000225964.6:p.Asn1283Lys
NM_000088.3:c.3849C>G , LRG_1t1:c.3849C>G	NP_000079.2:p.Asn1283Lys
ENST00000225964.9:c.3849C>G	ENSP00000225964.5:p.Asn1283Lys
ENST00000510710.3:n.518C>G
XM_005257058.3:c.3579C>G	XP_005257115.2:p.Asn1193Lys
XM_005257058.4:c.3579C>G	XP_005257115.2:p.Asn1193Lys
XM_005257059.3:c.2931C>G	XP_005257116.2:p.Asn977Lys
XM_005257059.4:c.2931C>G	XP_005257116.2:p.Asn977Lys
XM_011524341.1:c.3651C>G	XP_011522643.1:p.Asn1217Lys