Canonical Allele Identifier: CA400191821

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263229C>A (hg19) ; chr17:g.50185868C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185868C>A , CM000679.2:g.50185868C>A	GRCh38
NC_000017.10:g.48263229C>A , CM000679.1:g.48263229C>A	GRCh37
NC_000017.9:g.45618228C>A	NCBI36
NG_007400.1:g.20772G>T , LRG_1:g.20772G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4158G>T MANE Select	ENSP00000225964.6:p.Lys1386Asn
ENST00000225964.9:c.4158G>T	ENSP00000225964.5:p.Lys1386Asn
ENST00000510710.3:n.1123G>T
NM_000088.3:c.4158G>T , LRG_1t1:c.4158G>T	NP_000079.2:p.Lys1386Asn
XM_005257058.3:c.3888G>T	XP_005257115.2:p.Lys1296Asn
XM_005257059.3:c.3240G>T	XP_005257116.2:p.Lys1080Asn
XM_011524341.1:c.3960G>T	XP_011522643.1:p.Lys1320Asn
XM_005257058.4:c.3888G>T	XP_005257115.2:p.Lys1296Asn
XM_005257059.4:c.3240G>T	XP_005257116.2:p.Lys1080Asn
NM_000088.4:c.4158G>T MANE Select	NP_000079.2:p.Lys1386Asn