Canonical Allele Identifier: CA400201145

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48265950C>T (hg19) ; chr17:g.50188589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188589C>T , CM000679.2:g.50188589C>T	GRCh38
NC_000017.10:g.48265950C>T , CM000679.1:g.48265950C>T	GRCh37
NC_000017.9:g.45620949C>T	NCBI36
NG_007400.1:g.18051G>A , LRG_1:g.18051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3148G>A MANE Select	ENSP00000225964.6:p.Ala1050Thr
ENST00000225964.9:c.3148G>A	ENSP00000225964.5:p.Ala1050Thr
ENST00000511732.1:n.92G>A
NM_000088.3:c.3148G>A , LRG_1t1:c.3148G>A	NP_000079.2:p.Ala1050Thr
XM_005257058.3:c.2878G>A	XP_005257115.2:p.Ala960Thr
XM_005257059.3:c.2230G>A	XP_005257116.2:p.Ala744Thr
XM_011524341.1:c.2950G>A	XP_011522643.1:p.Ala984Thr
XM_005257058.4:c.2878G>A	XP_005257115.2:p.Ala960Thr
XM_005257059.4:c.2230G>A	XP_005257116.2:p.Ala744Thr
NM_000088.4:c.3148G>A MANE Select	NP_000079.2:p.Ala1050Thr