Canonical Allele Identifier: CA400191934

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263245G>A (hg19) ; chr17:g.50185884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185884G>A , CM000679.2:g.50185884G>A	GRCh38
NC_000017.10:g.48263245G>A , CM000679.1:g.48263245G>A	GRCh37
NC_000017.9:g.45618244G>A	NCBI36
NG_007400.1:g.20756C>T , LRG_1:g.20756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4142C>T MANE Select	ENSP00000225964.6:p.Thr1381Ile
ENST00000225964.9:c.4142C>T	ENSP00000225964.5:p.Thr1381Ile
ENST00000510710.3:n.1107C>T
NM_000088.3:c.4142C>T , LRG_1t1:c.4142C>T	NP_000079.2:p.Thr1381Ile
XM_005257058.3:c.3872C>T	XP_005257115.2:p.Thr1291Ile
XM_005257059.3:c.3224C>T	XP_005257116.2:p.Thr1075Ile
XM_011524341.1:c.3944C>T	XP_011522643.1:p.Thr1315Ile
XM_005257058.4:c.3872C>T	XP_005257115.2:p.Thr1291Ile
XM_005257059.4:c.3224C>T	XP_005257116.2:p.Thr1075Ile
NM_000088.4:c.4142C>T MANE Select	NP_000079.2:p.Thr1381Ile