Canonical Allele Identifier: CA400190633

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48262973A>T (hg19) ; chr17:g.50185612A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185612A>T , CM000679.2:g.50185612A>T	GRCh38
NC_000017.10:g.48262973A>T , CM000679.1:g.48262973A>T	GRCh37
NC_000017.9:g.45617972A>T	NCBI36
NG_007400.1:g.21028T>A , LRG_1:g.21028T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4285T>A MANE Select	ENSP00000225964.6:p.Tyr1429Asn
ENST00000225964.9:c.4285T>A	ENSP00000225964.5:p.Tyr1429Asn
NM_000088.3:c.4285T>A , LRG_1t1:c.4285T>A	NP_000079.2:p.Tyr1429Asn
XM_005257058.3:c.4015T>A	XP_005257115.2:p.Tyr1339Asn
XM_005257059.3:c.3367T>A	XP_005257116.2:p.Tyr1123Asn
XM_011524341.1:c.4087T>A	XP_011522643.1:p.Tyr1363Asn
XM_005257058.4:c.4015T>A	XP_005257115.2:p.Tyr1339Asn
XM_005257059.4:c.3367T>A	XP_005257116.2:p.Tyr1123Asn
NM_000088.4:c.4285T>A MANE Select	NP_000079.2:p.Tyr1429Asn